ClinVar Miner

List of variants in gene combination LOC129999660, PRKAG2 reported as likely benign for Cardiomyopathy

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_016203.4(PRKAG2):c.685-7C>A rs397517278 0.00001
NM_016203.4(PRKAG2):c.691C>T (p.Leu231=) rs745772277 0.00001
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=) rs777165701 0.00001
NM_016203.4(PRKAG2):c.685-19TCC[5] rs1265462032
NM_016203.4(PRKAG2):c.685-6C>T rs772481251
NM_016203.4(PRKAG2):c.685-7C>T rs397517278
NM_016203.4(PRKAG2):c.685-9C>T rs1824696243
NM_016203.4(PRKAG2):c.687G>A (p.Ala229=) rs1824684465
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=) rs931540862
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=) rs1476121151
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=) rs752351250

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