List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by OMIM

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	rs80356487	0.00026
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val)	rs104894565	0.00005
NM_000151.4(G6PC1):c.328G>A (p.Glu110Lys)	rs104894567	0.00004
NM_000151.4(G6PC1):c.1022T>A (p.Ile341Asn)	rs387906505	0.00003
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)	rs80356482	0.00003
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)	rs104894568	0.00001
NM_000151.4(G6PC1):c.883C>T (p.Arg295Cys)	rs104894563	0.00001
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)	rs104894566
NM_000151.4(G6PC1):c.230+4A>G	rs587776757
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)	rs80356488
NM_000151.4(G6PC1):c.497T>G (p.Val166Gly)	rs104894571
NM_000151.4(G6PC1):c.551G>A (p.Gly184Glu)	rs104894569

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