ClinVar Miner

List of variants reported as uncertain significance for Glycogen storage disease IXc

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Total variants: 10
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HGVS dbSNP
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808
NM_000294.3(PHKG2):c.911C>A (p.Pro304His)
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070

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