ClinVar Miner

List of variants in gene PHKG2 reported as uncertain significance for Glycogen storage disease IXc

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Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser) rs143983247 0.00332
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154 0.00252
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628 0.00240
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949 0.00153
NM_000294.3(PHKG2):c.-28G>T rs556945561 0.00070
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792 0.00038
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925 0.00032
NM_000294.3(PHKG2):c.*22C>T rs372172604 0.00031
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610 0.00024
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr) rs202177461 0.00022
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070 0.00019
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602 0.00018
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151 0.00017
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581 0.00012
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.926G>A (p.Arg309Gln) rs572115942 0.00008
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp) rs367711698 0.00007
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139 0.00006
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.139G>A (p.Gly47Ser) rs373915359 0.00004
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462 0.00004
NM_000294.3(PHKG2):c.*47G>A rs767591090 0.00003
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.-3A>G rs1049581523 0.00002
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp) rs746361026 0.00002
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.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr) rs192866993 0.00001
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808 0.00001
NM_000294.3(PHKG2):c.95+11G>A rs886051910 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.1077G>A (p.Gly359=) rs747926397
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.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del) rs2053338364
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.271+6G>A rs767677860
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
NM_000294.3(PHKG2):c.348dup (p.Asp117Ter)
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser) rs2053379091
NM_000294.3(PHKG2):c.556+11C>G rs2053379816
NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del) rs2151310152
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile) rs2053424230
NM_000294.3(PHKG2):c.698T>C (p.Phe233Ser)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
NM_000294.3(PHKG2):c.800T>G (p.Leu267Arg)
NM_000294.3(PHKG2):c.836G>A (p.Arg279His) rs2151310526
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
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.927+13G>A rs371298131
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.96-7C>G rs898984695
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)

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