List of variants reported as uncertain significance for Lethal congenital glycogen storage disease of heart by Illumina Laboratory Services, Illumina

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
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_016203.3(PRKAG2):c.-517G>T	rs886062107
NM_016203.3(PRKAG2):c.-575C>T	rs886062108
NM_016203.3(PRKAG2):c.-580C>T	rs886062109
NM_016203.4(PRKAG2):c.1021_1022delinsGT	rs886062094
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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