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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 38

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HGVS	dbSNP	gnomAD frequency
NM_000294.3(PHKG2):c.96-11G>A	rs751600886	0.00006
NM_000294.3(PHKG2):c.226C>T (p.Arg76Ter)	rs1450937339	0.00001
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)	rs375063162	0.00001
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)	rs1567261889	0.00001
NM_000294.3(PHKG2):c.433C>T (p.His145Tyr)	rs137853591	0.00001
NM_000294.3(PHKG2):c.502C>T (p.Arg168Ter)	rs778952896	0.00001
NM_000294.3(PHKG2):c.553C>T (p.Arg185Ter)	rs1270523244	0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn)	rs767427889	0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)	rs560414449	0.00001
NM_000294.3(PHKG2):c.130C>T (p.Arg44Ter)	rs137853590
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)	rs2053339231
NM_000294.3(PHKG2):c.250del (p.Val84fs)	rs1567260747
NM_000294.3(PHKG2):c.265dup (p.His89fs)
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.334_337del (p.Lys112fs)
NM_000294.3(PHKG2):c.385G>T (p.Glu129Ter)
NM_000294.3(PHKG2):c.454C>T (p.Arg152Ter)	rs772912966
NM_000294.3(PHKG2):c.539del (p.Pro180fs)	rs2053379013
NM_000294.3(PHKG2):c.53_54del (p.Lys18fs)
NM_000294.3(PHKG2):c.557-1_557delinsAG	rs2151310104
NM_000294.3(PHKG2):c.566G>A (p.Gly189Glu)	rs137853588
NM_000294.3(PHKG2):c.648-2_648del
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.72C>A (p.Tyr24Ter)
NM_000294.3(PHKG2):c.745C>T (p.Gln249Ter)	rs2053428286
NM_000294.3(PHKG2):c.767del (p.Glu256fs)
NM_000294.3(PHKG2):c.783del (p.Ser262fs)	rs1372753669
NM_000294.3(PHKG2):c.800_801+34del	rs2151310413
NM_000294.3(PHKG2):c.802-2A>C
NM_000294.3(PHKG2):c.827del (p.Pro276fs)
NM_000294.3(PHKG2):c.850C>T (p.Gln284Ter)
NM_000294.3(PHKG2):c.900G>A (p.Trp300Ter)
NM_000294.3(PHKG2):c.905_909del (p.Leu302fs)
NM_000294.3(PHKG2):c.927+1G>A	rs1445993948

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