ClinVar Miner

List of variants in gene PNPLA8 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001256007.3(PNPLA8):c.1971C>T (p.Ser657=) rs34848302 0.00644
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_001256007.3(PNPLA8):c.2292T>C (p.Asp764=) rs141467024 0.00246
NM_001256007.3(PNPLA8):c.1135T>G (p.Cys379Gly) rs141089628 0.00235
NM_001256007.3(PNPLA8):c.324G>A (p.Leu108=) rs141707516 0.00163
NM_001256007.3(PNPLA8):c.1023G>A (p.Glu341=) rs541866899 0.00072
NM_001256007.3(PNPLA8):c.795G>A (p.Thr265=) rs149043701 0.00022
NM_001256007.3(PNPLA8):c.363A>G (p.Glu121=) rs371594681 0.00018
NM_001256007.3(PNPLA8):c.1025A>G (p.Glu342Gly) rs138887728
NM_001256007.3(PNPLA8):c.1586A>G (p.His529Arg) rs1598909258
NM_001256007.3(PNPLA8):c.1821C>T (p.Ala607=)
NM_001256007.3(PNPLA8):c.291G>T (p.Val97=)
NM_001256007.3(PNPLA8):c.777C>A (p.Gly259=)

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