List of variants studied for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA by Natera, Inc.

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		ClinVar version:

Total variants: 19

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HGVS	dbSNP
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)	rs80356487
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=)	rs202190197
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175
NM_000151.4(G6PC1):c.255C>A (p.Tyr85Ter)	rs748363083
NM_000151.4(G6PC1):c.340+7G>A
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
NM_000151.4(G6PC1):c.467G>T (p.Trp156Leu)	rs1189630738
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
NM_000151.4(G6PC1):c.615C>T (p.Ser205=)	rs374522795
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)	rs515726229
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)	rs145172999
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)	rs529957748
NM_000151.4(G6PC1):c.888C>G (p.Leu296=)	rs1266860369
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)	rs368282218
NM_000151.4(G6PC1):c.960G>T (p.Leu320=)	rs531727073
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)	rs149486847
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	rs61730035
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)	rs9593

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