ClinVar Miner

List of variants in gene PNPLA2 studied for not provided

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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro) rs1138693 0.73113
NM_020376.4(PNPLA2):c.696+16A>G rs7942159 0.56588
NM_020376.4(PNPLA2):c.*248A>G rs1138714 0.47064
NM_020376.4(PNPLA2):c.1458C>T (p.Pro486=) rs1138694 0.21489
NM_020376.4(PNPLA2):c.1176-27C>G rs76574419 0.10179
NM_020376.4(PNPLA2):c.696+216T>C rs28633565 0.06263
NM_020376.4(PNPLA2):c.678C>T (p.Leu226=) rs10902224 0.02691
NM_020376.4(PNPLA2):c.1167G>T (p.Leu389=) rs11554663 0.02656
NM_020376.4(PNPLA2):c.793C>T (p.Pro265Ser) rs56152088 0.01687
NM_020376.4(PNPLA2):c.756C>G (p.Asn252Lys) rs140201358 0.00916
NM_020376.4(PNPLA2):c.1053-21C>T rs114512805 0.00855
NM_020376.4(PNPLA2):c.1149G>A (p.Arg383=) rs150770244 0.00637
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_020376.4(PNPLA2):c.919+42G>A rs561997027 0.00166
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.696+15G>A rs567151196 0.00071
NM_020376.4(PNPLA2):c.369C>T (p.Asp123=) rs142174851 0.00068
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104 0.00052
NM_020376.4(PNPLA2):c.1466G>T (p.Ser489Ile) rs201573098 0.00051
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.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.1182G>A (p.Pro394=) rs374839788 0.00001
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter) rs944560685 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020376.4(PNPLA2):c.669C>T (p.Ser223=) rs765164861 0.00001
NM_020376.4(PNPLA2):c.683C>T (p.Pro228Leu) rs886048708 0.00001
NM_020376.4(PNPLA2):c.966C>T (p.Leu322=) rs1229293310 0.00001
NM_020376.4(PNPLA2):c.*126TGCA[1] rs398054898
NM_020376.4(PNPLA2):c.1161G>A (p.Arg387=) rs916935322
NM_020376.4(PNPLA2):c.1335C>G (p.Leu445=)
NM_020376.4(PNPLA2):c.1430C>G (p.Pro477Arg) rs142588621
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.187+222T>G rs28592068
NM_020376.4(PNPLA2):c.322G>A (p.Glu108Lys)
NM_020376.4(PNPLA2):c.471C>A (p.Pro157=) rs1590175648
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys) rs772999318
NM_020376.4(PNPLA2):c.696+205TC[6] rs200940177
NM_020376.4(PNPLA2):c.758-4C>T rs1590177813
NM_020376.4(PNPLA2):c.787G>A (p.Ala263Thr) rs569211679
NM_020376.4(PNPLA2):c.799del (p.Ala267fs) rs1845756775
NM_020376.4(PNPLA2):c.834A>C (p.Ala278=)
NM_020376.4(PNPLA2):c.873C>G (p.Pro291=) rs1135628
NM_020376.4(PNPLA2):c.918G>A (p.Glu306=) rs201065998

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