ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance by Stanford Center for Inherited Cardiovascular Disease, Stanford University

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met) rs540525001 0.00004
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871 0.00002
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859 0.00002
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln) rs730880980 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988 0.00001
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1030C>T (p.His344Tyr) rs727504392
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile) rs1060503025
NM_016203.4(PRKAG2):c.467-2A>T rs1554531076
NM_016203.4(PRKAG2):c.611T>A (p.Phe204Tyr) rs876661382

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