ClinVar Miner

List of variants in gene PHKB reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
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HGVS dbSNP
NM_000293.3(PHKB):c.*590A>G
NM_000293.3(PHKB):c.*641C>A rs117861728
NM_000293.3(PHKB):c.*915G>A rs151262633
NM_000293.3(PHKB):c.*989A>T
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1204+9G>T rs200832185
NM_000293.3(PHKB):c.1364-10T>C rs199899291
NM_000293.3(PHKB):c.1458+16A>G rs371140883
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu) rs140636792
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile) rs56010117
NM_000293.3(PHKB):c.2427+1014G>A
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
NM_000293.3(PHKB):c.2766-7G>A rs199719186
NM_000293.3(PHKB):c.2766-8T>C rs186710481
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.710+12A>C
NM_000293.3(PHKB):c.870+10T>A rs144932435
NM_000293.3(PHKB):c.870+7C>T

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