List of variants reported as pathogenic for Lethal congenital glycogen storage disease of heart by Invitae

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Total variants: 12

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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.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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