Variants
HNF1A variants
The 245 HNF1A variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A15Gfs*15 | c.42_51delinsTG | Exon 1 | 120,978,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A116T | c.346G>A | Exon 2 | 120,988,852 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A116V | c.347C>T | Exon 2 | 120,988,853 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A209E | c.626C>A | Exon 3 | 120,993,619 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A209Sfs*11 | c.620dup | Exon 3 | 120,993,609 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A239T | c.715G>A | Exon 4 | 120,994,165 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A276D | c.827C>A | Exon 4 | 120,994,277 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A276G | c.827C>G | Exon 4 | 120,994,277 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A406V | c.1217C>T | Exon 6 | 120,996,650 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| A501T | c.1501G>A | Exon 7 | 120,997,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.1A>C | Exon 1 | 120,978,769 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 120,978,769 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>T | Exon 1 | 120,978,769 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2T>C | Exon 1 | 120,978,770 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.58G>C | Exon 1 | 120,978,826 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.129_130delinsA | Exon 1 | 120,978,897 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.326+1G>A | Intron 1 | 120,979,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.326+1G>C | Intron 1 | 120,979,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.326+1G>T | Intron 1 | 120,979,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.326+2T>G | Intron 1 | 120,979,096 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.327-1G>A | Intron 1 | 120,988,832 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.327-1G>T | Intron 1 | 120,988,832 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.327-2A>T | Intron 1 | 120,988,831 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.497dup | Exon 2 | 120,989,002 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.498C>G | Exon 2 | 120,989,004 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.514_526+33del | Exon 2 | 120,989,019 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+1_526+2insT | Intron 2 | 120,989,033 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+1G>A | Intron 2 | 120,989,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+1G>C | Intron 2 | 120,989,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+1G>T | Intron 2 | 120,989,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+2del | Intron 2 | 120,989,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.526+5G>A | Intron 2 | 120,989,037 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.527-1G>A | Intron 2 | 120,993,519 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.697G>T | Exon 3 | 120,993,690 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.864dup | Exon 4 | 120,994,311 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.872del | Exon 4 | 120,994,314 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.956-1G>A | Intron 4 | 120,996,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.956-1G>C | Intron 4 | 120,996,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.956-1G>T | Intron 4 | 120,996,261 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.956-2A>G | Intron 4 | 120,996,260 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1501+1G>A | Intron 7 | 120,997,666 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1501+1G>T | Intron 7 | 120,997,666 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1501+5G>C | Intron 7 | 120,997,670 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1623+1G>A | Intron 8 | 120,999,390 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1623+2T>C | Intron 8 | 120,999,391 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1624-1G>A | Intron 8 | 120,999,482 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1768+1G>A | Intron 9 | 120,999,628 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1768+1G>C | Intron 9 | 120,999,628 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1768+1G>T | Intron 9 | 120,999,628 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C241G | c.721T>G | Exon 4 | 120,994,171 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C241R | c.721T>C | Exon 4 | 120,994,171 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C241Y | c.722G>A | Exon 4 | 120,994,172 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| D135Vfs*20 | c.404del | Exon 2 | 120,988,909 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E24Gfs*8 | c.71_72del | Exon 1 | 120,978,836 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E32X | c.94G>T | Exon 1 | 120,978,862 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E41X | c.121G>T | Exon 1 | 120,978,889 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E48Sfs*107 | c.142del | Exon 1 | 120,978,905 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E66Gfs*30 | c.196dup | Exon 1 | 120,978,959 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E73X | c.217G>T | Exon 1 | 120,978,985 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E95X | c.282dup | Exon 1 | 120,979,049 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E105Gfs*83 | c.313dup | Exon 1 | 120,979,079 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E132K | c.394G>A | Exon 2 | 120,988,900 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E132V | c.395A>T | Exon 2 | 120,988,901 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E228Gfs*11 | c.682dup | Exon 3 | 120,993,673 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E230Dfs*8 | c.690_691del | Exon 3 | 120,993,678 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| E234X | c.700G>T | Exon 3 | 120,993,693 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E261K | c.781G>A | Exon 4 | 120,994,231 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| E619K | c.1855G>A | Exon 10 | 121,001,151 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F268I | c.802T>A | Exon 4 | 120,994,252 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F268L | c.802T>C | Exon 4 | 120,994,252 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F268S | c.803T>C | Exon 4 | 120,994,253 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G20A | c.59G>C | Exon 1 | 120,978,827 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G20E | c.59G>A | Exon 1 | 120,978,827 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G20R | c.58G>A | Exon 1 | 120,978,826 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G55Afs*3 | c.164_168del | Exon 1 | 120,978,928 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G69Afs*86 | c.206del | Exon 1 | 120,978,970 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G184X | c.549_552del | Exon 3 | 120,993,537 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G207C | c.619G>T | Exon 3 | 120,993,612 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| G207D | c.620G>A | Exon 3 | 120,993,613 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| G292Rfs*25 | c.872dup | Exon 4 | 120,994,314 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H143Q | c.429C>G | Exon 2 | 120,988,935 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H143Tfs*12 | c.427del | Exon 2 | 120,988,930 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H143Y | c.427C>T | Exon 2 | 120,988,933 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| H147D | c.439C>G | Exon 2 | 120,988,945 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| H179Pfs*9 | c.535dup | Exon 3 | 120,993,525 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I213F | c.637A>T | Exon 3 | 120,993,630 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I242Mfs*76 | c.722_725dup | Exon 4 | 120,994,169 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I618Rfs*30 | c.1853_1854del | Exon 10 | 121,001,148 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K23Rfs*9 | c.68_69del | Exon 1 | 120,978,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K87X | c.259A>T | Exon 1 | 120,979,027 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K117E | c.349A>G | Exon 2 | 120,988,855 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K120E | c.358A>G | Exon 2 | 120,988,864 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K120N | c.360G>C | Exon 2 | 120,988,866 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K158_R159delinsNW | c.474_475delinsCT | Exon 2 | 120,988,980 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K158E | c.472A>G | Exon 2 | 120,988,978 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K158X | c.472A>T | Exon 2 | 120,988,978 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| K205Sfs*28 | c.614del | Exon 3 | 120,993,605 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K222del | c.666_668del | Exon 3 | 120,993,654 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K226E | c.676A>G | Exon 3 | 120,993,669 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L12F | c.34C>T | Exon 1 | 120,978,802 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |