ClinVar Miner

List of variants in gene PRKAG2 reported as pathogenic for Lethal congenital glycogen storage disease of heart

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu) rs727504707
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala) rs2151024166
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr) rs730882148
NM_016203.4(PRKAG2):c.1453A>G (p.Lys485Glu)
NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp) rs1804721948
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile) rs1808950153
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987

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