Variants
CFTR variants
The 369 CFTR 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 |
|---|---|---|---|---|---|
| A455E | c.1364C>A | Exon 10 | 117,548,795 | Pathogenic | 4 stars out of 4 practice guideline |
| c.489+1G>T621+1G>T | Intron 4 | 117,531,115 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.579+1G>T711+1G>T | Intron 5 | 117,534,366 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.1585-1G>A1717-1G->A | Intron 11 | 117,587,738 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.1766+1G>A1898+1G>A | Intron 13 | 117,590,440 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.2657+5G>A2789+5G>A | Intron 16 | 117,602,868 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.2988+1G>A3120+1G>A | Intron 18 | 117,606,754 | Pathogenic | 4 stars out of 4 practice guideline | |
| c.3718-2477C>T3849+10kbC->T | Intron 22 | 117,639,961 | Pathogenic | 4 stars out of 4 practice guideline | |
| F508del | c.1521_1523del | Exon 11 | 117,559,590 | Pathogenic | 4 stars out of 4 practice guideline |
| G85E | c.254G>A | Exon 3 | 117,509,123 | Pathogenic | 4 stars out of 4 practice guideline |
| G542X | c.1624G>T | Exon 12 | 117,587,778 | Pathogenic | 4 stars out of 4 practice guideline |
| G551D | c.1652G>A | Exon 12 | 117,587,806 | Pathogenic | 4 stars out of 4 practice guideline |
| I507del | c.1519_1521del | Exon 11 | 117,559,586 | Pathogenic | 4 stars out of 4 practice guideline |
| K684Nfs*38 | c.2052del | Exon 14 | 117,592,212 | Pathogenic | 4 stars out of 4 practice guideline |
| K1177Sfs*15 | c.3528del | Exon 22 | 117,627,579 | Pathogenic | 4 stars out of 4 practice guideline |
| N1303K | c.3909C>G | Exon 24 | 117,652,877 | Pathogenic | 4 stars out of 4 practice guideline |
| R117H | c.350G>A | Exon 4 | 117,530,975 | Pathogenic | 4 stars out of 4 practice guideline |
| R334W | c.1000C>T | Exon 8 | 117,540,230 | Pathogenic | 4 stars out of 4 practice guideline |
| R347P | c.1040G>C | Exon 8 | 117,540,270 | Pathogenic | 4 stars out of 4 practice guideline |
| R553X | c.1657C>T | Exon 12 | 117,587,811 | Pathogenic | 4 stars out of 4 practice guideline |
| R560T | c.1679G>C | Exon 12 | 117,587,833 | Pathogenic | 4 stars out of 4 practice guideline |
| R1162X | c.3484C>T | Exon 22 | 117,627,537 | Pathogenic | 4 stars out of 4 practice guideline |
| W1282X | c.3846G>A | Exon 23 | 117,642,566 | Pathogenic | 4 stars out of 4 practice guideline |
| A46D | c.137C>A | Exon 2 | 117,504,336 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A559T | c.1675G>A | Exon 12 | 117,587,829 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A561E | c.1682C>A | Exon 13 | 117,590,355 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A613T | c.1837G>A | Exon 14 | 117,592,004 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A959Hfs*9 | c.2875del | Exon 17 | 117,603,748 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1004_A1006del | c.3011_3019del | Exon 19 | 117,610,538 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| A1006E | c.3017C>A | Exon 19 | 117,610,547 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.-13_10del124del23bp | Exon 1 | 117,480,081 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1A>G | Exon 1 | 117,480,095 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.53+1G>T185+1G->T | Intron 1 | 117,480,148 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.54-2_162delCFTRdele2 | Intron 1 | 117,504,250 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164+1G>A296+1G>A | Intron 2 | 117,504,364 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164+1G>T296+1G->T | Intron 2 | 117,504,364 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164+2T>C | Intron 2 | 117,504,365 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.164+3_164+4insT | Intron 2 | 117,504,366 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.165-1G>A297-1G->A | Intron 2 | 117,509,033 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.170G>A | Exon 3 | 117,509,039 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.263T>G | Exon 3 | 117,509,132 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.273+1G>A405+1G->A | Intron 3 | 117,509,143 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.273+3A>C405+3A->C | Intron 3 | 117,509,145 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.274-1G>A406-1G>A | Intron 3 | 117,530,898 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.274-2A>G | Intron 3 | 117,530,897 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.579+3A>G711+3A->G | Intron 5 | 117,534,368 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.579+5G>A711+5G->A | Intron 5 | 117,534,370 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.580-1G>T712-1G->T | Intron 5 | 117,535,247 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.580-2A>G | Intron 5 | 117,535,246 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.744-2A>G876-2A>G | Intron 6 | 117,536,546 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1116+1G>A1248+1G->A | Intron 8 | 117,540,347 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1117-1G>A1249-1G->A | Intron 8 | 117,542,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1203G>A | Exon 9 | 117,542,102 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1209+1G>A1341+1G->A | Intron 9 | 117,542,109 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1210-1del | Intron 9 | 117,548,639 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1210-2A>C1342-2A->C | Intron 9 | 117,548,639 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1393-1G>A1525-1G->A | Intron 10 | 117,559,463 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1393-2A>G1525-2A->G | Intron 10 | 117,559,462 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1397C>A | Exon 11 | 117,559,468 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1584+1G>A1716+1G->A | Intron 11 | 117,559,656 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1585-8G>A1717-8G->A | Intron 11 | 117,587,731 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1647T>A | Exon 12 | 117,587,801 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1647T>G | Exon 12 | 117,587,801 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1679+1G>A | Intron 12 | 117,587,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1679+1G>C1811+1G->C | Intron 12 | 117,587,834 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1680-1G>A1812-1G>A | Intron 12 | 117,590,352 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1680-877G>T | Intron 12 | 117,589,476 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1680-886A>G1811+1.6kbA->G | Intron 12 | 117,589,467 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1766+1G>C1898+1G->C | Intron 13 | 117,590,440 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1766+1G>T | Intron 13 | 117,590,440 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1766+3A>G1898+3A->G | Intron 13 | 117,590,442 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1766+5G>T | Intron 13 | 117,590,444 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.1882G>C | Exon 14 | 117,592,049 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2490+1G>A2622+1G->A | Intron 14 | 117,592,658 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2537G>A | Exon 15 | 117,594,976 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2658-1G>C2790-1G->C | Intron 16 | 117,603,531 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2739T>A | Exon 17 | 117,603,613 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2988G>A3120G->A | Exon 18 | 117,606,753 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2989-1G>A3121-1G->A | Intron 18 | 117,610,518 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2989-2_3137delCFTRdele19 | Intron 18 | 117,610,516 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2989-2A>G3121-2A->G | Intron 18 | 117,610,517 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.2989-979_3367+246del | Intron 18 | 117,609,539 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3139_3139+1del | Exon 19 | 117,610,668 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3140-26A>G3272-26A->G | Intron 19 | 117,611,555 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3276C>A | Exon 20 | 117,611,717 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3294G>A | Exon 20 | 117,611,735 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3294G>T | Exon 20 | 117,611,735 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3368-2A>G3500-2A->G | Intron 20 | 117,614,611 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3468+1_3468+2insT | Intron 21 | 117,614,714 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3468+5G>A | Intron 21 | 117,614,718 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3468G>A | Exon 21 | 117,614,713 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3612G>A | Exon 22 | 117,627,665 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3717+4A>G3849+4A->G | Intron 22 | 117,627,774 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3717+5G>A3849+5G->A | Intron 22 | 117,627,775 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3717+40A>G | Intron 22 | 117,627,810 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3717G>A3849G->A | Exon 22 | 117,627,770 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3718-1G>A3850-1G->A | Intron 22 | 117,642,437 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3718-3T>G3850-3T->G | Intron 22 | 117,642,435 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3747del | Exon 23 | 117,642,464 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.3873+1G>A4005+1G->A | Intron 23 | 117,642,594 | Pathogenic | 3 stars out of 4 reviewed by expert panel |