ClinVar Miner

List of variants in gene PHKB 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: 13
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HGVS dbSNP
NC_000016.10:g.(?_47669195)_(47669437_?)del
NC_000016.9:g.(?_47545556)_(47581479_?)del
NM_000293.2(PHKB):c.[2923T>C;2926G>T]
NM_000293.3(PHKB):c.1257T>A (p.Tyr419Ter) rs121918021
NM_000293.3(PHKB):c.1364-2A>G
NM_000293.3(PHKB):c.1969C>T (p.Gln657Ter) rs34667348
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter) rs149244943
NM_000293.3(PHKB):c.2427+1045del
NM_000293.3(PHKB):c.306-2A>G rs797044442
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del
NM_000293.3:c.(?_-1)_(1068+1_1069-1)del
PHKB, 1-BP INS

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