ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP
NM_000293.3(PHKB):c.*148T>A rs368887864
NM_000293.3(PHKB):c.*1753G>A rs7202866
NM_000293.3(PHKB):c.*2086A>G rs9940720
NM_000293.3(PHKB):c.*226A>G
NM_000293.3(PHKB):c.*740C>T rs184521822
NM_000293.3(PHKB):c.1126+14T>G rs28691569
NM_000293.3(PHKB):c.1363+13G>T rs117536391
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.3(PHKB):c.2532G>A (p.Glu844=) rs140117779
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000293.3(PHKB):c.3267G>A (p.Pro1089=) rs146134171
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.595-5T>G rs369184808
NM_000293.3(PHKB):c.76+2537G>A
NM_000293.3(PHKB):c.775-6G>C rs56268318

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