ClinVar Miner

List of variants reported as pathogenic for PHARC syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_001042472.3(ABHD12):c.1054C>T (p.Arg352Ter) rs267606624
NM_001042472.3(ABHD12):c.1116C>G (p.His372Gln) rs587777602
NM_001042472.3(ABHD12):c.211_223del (p.Arg71fs) rs1555817157
NM_001042472.3(ABHD12):c.249C>G (p.Tyr83Ter) rs1303044966
NM_001042472.3(ABHD12):c.337_338delinsTTT (p.Asp113fs) rs1555813914
NM_001042472.3(ABHD12):c.477G>A (p.Trp159Ter) rs587777603
NM_001042472.3(ABHD12):c.557G>C (p.Arg186Pro) rs587777604
NM_001042472.3(ABHD12):c.846_852dup (p.His285Ter) rs397704714
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.