ClinVar Miner

Variants in gene PNPLA2 with conflicting interpretations "likely benign" and "uncertain significance"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 25
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.369C>T (p.Asp123=) rs142174851 0.00068
NM_020376.4(PNPLA2):c.399C>T (p.Asn133=) rs143992505 0.00057
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104 0.00052
NM_020376.4(PNPLA2):c.487-8C>T rs201418203 0.00048
NM_020376.4(PNPLA2):c.492C>T (p.Tyr164=) rs147314508 0.00047
NM_020376.4(PNPLA2):c.236G>A (p.Arg79Gln) rs139576982 0.00045
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_020376.4(PNPLA2):c.726C>T (p.Tyr242=) rs144220751 0.00021
NM_020376.4(PNPLA2):c.597C>T (p.Ser199=) rs552415591 0.00011
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893 0.00005
NM_020376.4(PNPLA2):c.747G>A (p.Leu249=) rs140959695 0.00004
NM_020376.4(PNPLA2):c.806C>T (p.Pro269Leu) rs201894536 0.00004
NM_020376.4(PNPLA2):c.487-7G>C rs372342635 0.00003
NM_020376.4(PNPLA2):c.1090C>T (p.Arg364Trp) rs577421006 0.00002
NM_020376.4(PNPLA2):c.1491C>T (p.Pro497=) rs1434319423 0.00001
NM_020376.4(PNPLA2):c.687G>A (p.Pro229=) rs371893260 0.00001
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) rs758918583 0.00001
NM_020376.4(PNPLA2):c.912C>A (p.Leu304=) rs886048710 0.00001
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020376.4(PNPLA2):c.487-15T>G rs749452055
NM_020376.4(PNPLA2):c.487-7G>A rs372342635

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.