ClinVar Miner

List of variants in gene PNPLA2 reported as benign for Neutral lipid storage myopathy

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Total variants: 23
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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.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.1237G>A (p.Ala413Thr) rs147465559 0.00212
NM_020376.4(PNPLA2):c.696+15G>A rs567151196 0.00071
NM_020376.4(PNPLA2):c.757+16C>T rs145835771 0.00054
NM_020376.4(PNPLA2):c.1466G>T (p.Ser489Ile) rs201573098 0.00051
NM_020376.4(PNPLA2):c.863C>G (p.Ser288Trp) rs200088893 0.00039
NM_020376.4(PNPLA2):c.246C>A (p.Gly82=) rs200701730 0.00001
NM_020376.4(PNPLA2):c.*126TGCA[1] rs398054898
NM_020376.4(PNPLA2):c.*596C>G rs74045166
NM_020376.4(PNPLA2):c.1052+17dup
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.873C>G (p.Pro291=) rs1135628
NM_020376.4(PNPLA2):c.919+15dup

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