ClinVar Miner

List of variants in gene PNPLA2 studied for Inborn genetic diseases

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Total variants: 28
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HGVS dbSNP gnomAD frequency
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.1406C>T (p.Pro469Leu) rs201177082 0.00063
NM_020376.4(PNPLA2):c.1217C>T (p.Pro406Leu) rs370098225 0.00025
NM_020376.4(PNPLA2):c.1408G>A (p.Ala470Thr) rs374358848 0.00011
NM_020376.4(PNPLA2):c.235C>T (p.Arg79Trp) rs371871714 0.00010
NM_020376.4(PNPLA2):c.1181C>A (p.Pro394Gln) rs373114735 0.00009
NM_020376.4(PNPLA2):c.425A>G (p.Asn142Ser) rs758738508 0.00002
NM_020376.4(PNPLA2):c.1316G>A (p.Cys439Tyr) rs766730036 0.00001
NM_020376.4(PNPLA2):c.1339C>T (p.Leu447Phe) rs769822451 0.00001
NM_020376.4(PNPLA2):c.448G>A (p.Val150Met) rs745927123 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020376.4(PNPLA2):c.907C>G (p.Arg303Gly) rs772421048 0.00001
NM_020376.4(PNPLA2):c.953T>C (p.Leu318Pro) rs775075567 0.00001
NM_020376.4(PNPLA2):c.1139G>A (p.Arg380His) rs372164277
NM_020376.4(PNPLA2):c.1150A>C (p.Lys384Gln)
NM_020376.4(PNPLA2):c.1258C>T (p.Pro420Ser)
NM_020376.4(PNPLA2):c.1439A>G (p.Gln480Arg)
NM_020376.4(PNPLA2):c.1457C>A (p.Pro486His) rs1274843840
NM_020376.4(PNPLA2):c.487C>T (p.Arg163Cys) rs772999318
NM_020376.4(PNPLA2):c.488G>A (p.Arg163His)
NM_020376.4(PNPLA2):c.697G>A (p.Val233Met)
NM_020376.4(PNPLA2):c.752G>C (p.Arg251Pro)
NM_020376.4(PNPLA2):c.808C>A (p.His270Asn)
NM_020376.4(PNPLA2):c.822C>G (p.Asp274Glu)
NM_020376.4(PNPLA2):c.871C>T (p.Pro291Ser) rs774103876
NM_020376.4(PNPLA2):c.875G>A (p.Gly292Glu)
NM_020376.4(PNPLA2):c.973A>C (p.Met325Leu) rs761266261

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