ClinVar Miner

List of variants in gene PHKG2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Total variants: 26
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HGVS dbSNP
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
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.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672
NM_000294.3(PHKG2):c.277del (p.Leu93fs)
NM_000294.3(PHKG2):c.316_317GT[1] (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter) rs1270523244
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu) rs137853588
NM_000294.3(PHKG2):c.657del (p.Cys219fs)
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter) rs1555467557
NM_000294.3(PHKG2):c.677T>G (p.Leu226Arg) rs137853592
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
NM_000294.3(PHKG2):c.783del (p.Ser262fs)
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
PHKG2, 1-BP INS

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