ClinVar Miner

List of variants in gene PNPLA2 reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.1220C>T (p.Ser407Phe) rs202081894 0.00128
NM_020376.4(PNPLA2):c.1277A>G (p.Asn426Ser) rs140634178 0.00122
NM_020376.4(PNPLA2):c.964C>T (p.Leu322Phe) rs137866968 0.00073
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr) rs374358848 0.00011
NM_020376.4(PNPLA2):c.1484C>A (p.Ala495Asp) rs761924298 0.00003
NM_020376.4(PNPLA2):c.373G>A (p.Glu125Lys) rs1036232298 0.00003
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006 0.00002
NM_020376.4(PNPLA2):c.662G>A (p.Arg221His) rs554737718 0.00002
NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu) rs886048708 0.00001
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020376.4(PNPLA2):c.1513T>A (p.Ter505Arg) rs2133852687
NM_020376.4(PNPLA2):c.322G>A (p.Glu108Lys)
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys) rs772999318
NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr) rs569211679

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.