ClinVar Miner

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

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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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