Variants
RMRP variants
The 19 RMRP 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 | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| n.2_3insCTCTGTGAAGCTGAGGACGTGG | Exon 1 | 35,658,016 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.3_4insGAAGCTGAGGACGTGGT | Exon 1 | 35,658,015 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.36C>A | Exon 1 | 35,657,983 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.36C>T | Exon 1 | 35,657,983 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.147G>A | Exon 1 | 35,657,872 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.181G>A | Exon 1 | 35,657,838 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.194G>A193G-A | Exon 1 | 35,657,825 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.196C>T195C-T | Exon 1 | 35,657,823 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.212C>G | Exon 1 | 35,657,807 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.219A>G218A-G | Exon 1 | 35,657,800 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.221T>C | Exon 1 | 35,657,798 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.231C>T | Exon 1 | 35,657,788 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.243A>C | Exon 1 | 35,657,776 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.243A>G | Exon 1 | 35,657,776 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.257_266del | Exon 1 | 35,657,752 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.263G>C | Exon 1 | 35,657,756 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| n.263G>T262G-T | Exon 1 | 35,657,756 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| rs1554651423 | 35,658,021 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| rs1554651544 | 35,658,035 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |