ClinVar Miner

List of variants in gene PHKB reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.775-6G>C rs56268318 0.12475
NM_000293.3(PHKB):c.2337-80T>A rs1011532 0.11583
NM_000293.3(PHKB):c.2197-171G>A rs8054582 0.11187
NM_000293.3(PHKB):c.2196+91G>T rs7195074 0.10768
NM_000293.3(PHKB):c.1069-160G>T rs721649 0.10752
NM_000293.3(PHKB):c.2896-236del rs148191408 0.10726
NM_000293.3(PHKB):c.1363+97T>C rs12445959 0.08423
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000293.3(PHKB):c.594+85G>A rs78297758 0.04998
NM_000293.3(PHKB):c.2766-257G>C rs930781 0.01767
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.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.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.1069-236AG[7] rs146578432
NM_000293.3(PHKB):c.1881-52_1881-49del rs3830242
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.3144+33_3144+34dup rs5816579
NM_000293.3(PHKB):c.3144+34dup rs5816579
NM_000293.3(PHKB):c.774+217del rs57329634

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