ClinVar Miner

List of variants in gene PIGN reported by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_176787.5(PIGN):c.1693C>T (p.Arg565Cys) rs374005156 0.00006
NM_176787.5(PIGN):c.1694G>A (p.Arg565His) rs201835155 0.00006
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp) rs746882521 0.00005
NM_176787.5(PIGN):c.1251+1G>A rs1462805697 0.00003
NM_176787.5(PIGN):c.1442G>A (p.Ser481Asn) rs763149264 0.00003
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter) rs768412580 0.00001
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg) rs771266203 0.00001
NM_176787.5(PIGN):c.473G>T (p.Ser158Ile) rs767550839 0.00001
NM_176787.5(PIGN):c.1144A>G (p.Thr382Ala) rs1303809190
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.2288C>T (p.Thr763Ile) rs2033831809
NM_176787.5(PIGN):c.2619+5G>A
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655

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.