ClinVar Miner

List of variants in gene PHKG2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_000294.3(PHKG2):c.*22C>T
NM_000294.3(PHKG2):c.*47G>A
NM_000294.3(PHKG2):c.-28G>T rs556945561
NM_000294.3(PHKG2):c.-3A>G
NM_000294.3(PHKG2):c.-70C>T rs879456688
NM_000294.3(PHKG2):c.-76G>C
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=) rs61731628
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr) rs886051914
NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val)
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625
NM_000294.3(PHKG2):c.21G>A (p.Pro7=) rs200427925
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) rs779594016
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672
NM_000294.3(PHKG2):c.271+14C>T rs572169140
NM_000294.3(PHKG2):c.271+6G>A
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513
NM_000294.3(PHKG2):c.318G>T (p.Val106=) rs199743139
NM_000294.3(PHKG2):c.324C>T (p.Asp108=) rs138416154
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
NM_000294.3(PHKG2):c.448G>A (p.Val150Met) rs886051911
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
NM_000294.3(PHKG2):c.556+11C>G
NM_000294.3(PHKG2):c.556+4_556+5dup rs767789467
NM_000294.3(PHKG2):c.556+5G>T rs369684098
NM_000294.3(PHKG2):c.585G>A (p.Ala195=) rs187710792
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val) rs777228104
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808
NM_000294.3(PHKG2):c.911C>A (p.Pro304His) rs781099286
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070
NM_000294.3(PHKG2):c.921G>T (p.Arg307=) rs201113602
NM_000294.3(PHKG2):c.927+13G>A
NM_000294.3(PHKG2):c.928-9C>G rs886051913
NM_000294.3(PHKG2):c.95+11G>A rs886051910
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
NM_000294.3(PHKG2):c.96-7C>G
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
NM_001172432.1(PHKG2):c.-106G>A rs879382458
NM_001172432.1(PHKG2):c.-118G>A
NM_001172432.1(PHKG2):c.-162C>T

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