ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter) rs137853590
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
NM_000294.3(PHKG2):c.250del (p.Val84fs) rs1567260747
NM_000294.3(PHKG2):c.277del (p.Leu93fs) rs1596680941
NM_000294.3(PHKG2):c.317T>A (p.Val106Glu) rs137853589
NM_000294.3(PHKG2):c.318_319del (p.Val106_Phe107insTer) rs1555467052
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr) rs137853591
NM_000294.3(PHKG2):c.539del (p.Pro180fs)
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.643G>A (p.Asp215Asn)
NM_000294.3(PHKG2):c.657del (p.Cys219fs) rs1596687555
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.745C>T (p.Gln249Ter)
NM_000294.3(PHKG2):c.783del (p.Ser262fs) rs1372753669

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