ClinVar Miner

List of variants in gene PHKB reported as benign for not specified

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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_000293.3(PHKB):c.1363+13G>T rs117536391 0.01189
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.870+17T>C rs75918606 0.00923
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_000293.3(PHKB):c.1127-14A>G rs185628131 0.00258
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230

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