List of variants reported as pathogenic for disorder of glycogen metabolism by 3billion

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	rs121907943	0.00063
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	rs80356491	0.00026
NM_000642.3(AGL):c.256C>T (p.Gln86Ter)	rs193186112	0.00014
NM_000293.3(PHKB):c.1127-2A>G	rs535749057	0.00012
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter)	rs121918419	0.00009
NM_021957.4(GYS2):c.547C>T (p.Gln183Ter)	rs201157731	0.00005
NM_000642.3(AGL):c.2681+1G>A	rs201201443	0.00003
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_002863.5(PYGL):c.1768+1G>A	rs113993982	0.00002
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn)	rs141533320	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	rs121907937	0.00001
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)	rs1273669177	0.00001
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu)	rs121909744	0.00001
NM_000642.3(AGL):c.100C>T (p.Arg34Ter)	rs781580050	0.00001
NM_000151.4(G6PC1):c.310C>T (p.Gln104Ter)	rs2056043532
NM_000152.5(GAA):c.1464dup (p.Asp489fs)	rs2039213824
NM_000152.5(GAA):c.2261dup (p.Val755fs)	rs1555602648
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	rs34667348
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413
NM_000294.3(PHKG2):c.802-2A>C
NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter)	rs753980727
NM_000340.2(SLC2A2):c.482dup (p.Gly162fs)
NM_000642.3(AGL):c.2223_2224del (p.Gln741fs)	rs1553186613
NM_000642.3(AGL):c.4456del (p.Ser1486fs)	rs113994134
NM_000642.3(AGL):c.753_756del (p.Asp251fs)	rs748789700
NM_021957.4(GYS2):c.465del (p.Phe155fs)	rs763929651

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