ClinVar Miner

Variants in gene PHKB with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 16
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HGVS dbSNP gnomAD frequency
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.555G>T (p.Met185Ile) rs56257827 0.01025
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.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.1797+8C>T rs77462273 0.00023
NM_000293.3(PHKB):c.2766-8T>C rs186710481 0.00016
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.710+12A>C rs542318460 0.00001
NM_000293.3(PHKB):c.1881-52_1881-49del rs3830242
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230

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