ClinVar Miner

List of variants in gene PNPLA2 reported by OMIM

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020376.4(PNPLA2):c.584C>T (p.Pro195Leu) rs121918259 0.00001
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs) rs796065308 0.00001
NM_020376.4(PNPLA2):c.467del (p.Pro156fs) rs796065307
NM_020376.4(PNPLA2):c.475_478dup (p.Gln160fs) rs796065310
NM_020376.4(PNPLA2):c.543del (p.Ile182fs) rs796065309
NM_020376.4(PNPLA2):c.749A>C (p.Gln250Pro) rs397514625
NM_020376.4(PNPLA2):c.757+1G>T rs869320738
NM_020376.4(PNPLA2):c.757+2T>C rs777539013
NM_020376.4(PNPLA2):c.808del (p.His270fs) rs796065303
NM_020376.4(PNPLA2):c.847del (p.Gln283fs) rs796065304
NM_020376.4(PNPLA2):c.865C>T (p.Gln289Ter) rs121918260

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