ClinVar Miner

List of variants in gene PNPLA2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 31
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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.1458C>T (p.Pro486=) rs1138694 0.21489
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.1149G>A (p.Arg383=) rs150770244 0.00637
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_020376.4(PNPLA2):c.1364C>A (p.Pro455Gln) rs187668158 0.00224
NM_020376.4(PNPLA2):c.1327C>G (p.Leu443Val) rs182948893 0.00210
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.757+16C>T rs145835771 0.00054
NM_020376.4(PNPLA2):c.487-8C>T rs201418203 0.00048
NM_020376.4(PNPLA2):c.943C>T (p.Pro315Ser) rs150385364 0.00029
NM_020376.4(PNPLA2):c.360C>T (p.Arg120=) rs141674273 0.00024
NM_020376.4(PNPLA2):c.516C>T (p.Asn172=) rs1015906173 0.00005
NM_020376.4(PNPLA2):c.591C>T (p.Asp197=) rs200897893 0.00005
NM_020376.4(PNPLA2):c.815C>G (p.Pro272Arg) rs200993304 0.00004
NM_020376.4(PNPLA2):c.891G>A (p.Leu297=) rs572200318 0.00004
NM_020376.4(PNPLA2):c.487-7G>C rs372342635 0.00003
NM_020376.4(PNPLA2):c.246C>A (p.Gly82=) rs200701730 0.00001
NM_020376.4(PNPLA2):c.781T>C (p.Leu261=) rs758918583 0.00001
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.1458_1459delinsTC (p.Pro486_Leu487=) rs886038654
NM_020376.4(PNPLA2):c.370G>A (p.Gly124Ser)
NM_020376.4(PNPLA2):c.487-7G>A rs372342635
NM_020376.4(PNPLA2):c.873C>G (p.Pro291=) rs1135628
NM_020376.4(PNPLA2):c.918G>A (p.Glu306=) rs201065998

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