ClinVar Miner

List of variants in gene PRKAG2 studied for Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_016203.3(PRKAG2):c.-520C>T rs73160072 0.01266
NM_016203.4(PRKAG2):c.-322T>C rs142348760 0.00504
NM_016203.4(PRKAG2):c.-40C>T rs148715621 0.00503
NM_016203.4(PRKAG2):c.186+7C>T rs886062102 0.00001
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser) rs730880970 0.00001
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016203.3(PRKAG2):c.-517G>T rs886062107
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT rs886062094
NM_016203.4(PRKAG2):c.*1021del rs11329945
NM_016203.4(PRKAG2):c.*1029dup rs1554444891
NM_016203.4(PRKAG2):c.*1040del rs56898021
NM_016203.4(PRKAG2):c.*1040dup rs56898021
NM_016203.4(PRKAG2):c.*1041dup rs886062093
NM_016203.4(PRKAG2):c.*350C>A rs886062099
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.-274C>A rs886062104
NM_016203.4(PRKAG2):c.-351G>A rs886062105
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=) rs886062100
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525

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