ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00025
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151 0.00017
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln) rs572115942 0.00010
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104 0.00009
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672 0.00008
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys) rs370423261 0.00006
NM_000294.3(PHKG2):c.556+5G>T rs369684098 0.00005
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00004
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp) rs564686049 0.00003
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val) rs770253840 0.00003
NM_000294.3(PHKG2):c.911C>A (p.Pro304His) rs781099286 0.00003
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln) rs756345604 0.00002
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser) rs920855301 0.00001
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625 0.00001
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) rs779594016 0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro) rs1567261889 0.00001
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NC_000016.9:g.(?_30760142)_(30768418_?)dup
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del) rs2053338364
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
NM_000294.3(PHKG2):c.271+6G>A rs767677860
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser) rs2053379091
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro) rs780358808
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
NM_000294.3(PHKG2):c.913dup (p.Arg305fs) rs2151310570
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)

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