ClinVar Miner

List of variants in gene PNPLA2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 11
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HGVS dbSNP gnomAD frequency
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.369C>T (p.Asp123=) rs142174851 0.00068
NM_020376.4(PNPLA2):c.903C>T (p.Pro301=) rs141190104 0.00052
NM_020376.4(PNPLA2):c.1466G>T (p.Ser489Ile) rs201573098 0.00051
NM_020376.4(PNPLA2):c.487-8C>T rs201418203 0.00048
NM_020376.4(PNPLA2):c.1182G>A (p.Pro394=) rs374839788 0.00001
NM_020376.4(PNPLA2):c.1335C>G (p.Leu445=)
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020376.4(PNPLA2):c.834A>C (p.Ala278=)
NM_020376.4(PNPLA2):c.918G>A (p.Glu306=) rs201065998

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