List of variants reported as likely pathogenic for disorder of glycogen metabolism by Illumina Laboratory Services, Illumina

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)	rs116135678	0.00074
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)	rs200856561	0.00038
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)	rs373190458	0.00009
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)	rs121918420	0.00009
NM_000293.3(PHKB):c.1090G>T (p.Glu364Ter)	rs371296953	0.00007
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)	rs577915581	0.00006
NM_002863.5(PYGL):c.1620+1G>A	rs113993981	0.00006
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)	rs137852891	0.00001
NM_000642.3(AGL):c.3682C>T (p.Arg1228Ter)	rs113994131	0.00001
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter)	rs34667348
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127
NM_005609.4(PYGM):c.2262del (p.Lys754fs)	rs398124210

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