ClinVar Miner

List of variants reported as likely benign for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA

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ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_000151.4(G6PC1):c.*2418G>C
NM_000151.4(G6PC1):c.*2975A>T
NM_000151.4(G6PC1):c.*3G>A rs191399793
NM_000151.4(G6PC1):c.*745G>T rs116897758
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
NM_000151.4(G6PC1):c.231-5C>T
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+20C>T rs183285298
NM_000151.4(G6PC1):c.340+7G>T
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
NM_000151.4(G6PC1):c.446+7A>C
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.562+7G>A
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-6A>G
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=)

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