ClinVar Miner

List of variants in gene PHKB studied for not specified

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Gene type:
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Total variants: 44
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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.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_000293.3(PHKB):c.1126+14T>G rs28691569 0.00450
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.574A>G (p.Ile192Val) rs117218785 0.00165
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000293.3(PHKB):c.1458+16A>G rs371140883 0.00093
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242 0.00066
NM_000293.3(PHKB):c.1803G>A (p.Ala601=) rs35690654 0.00048
NM_000293.3(PHKB):c.1364-10T>C rs199899291 0.00029
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556 0.00029
NM_000293.3(PHKB):c.1609-20T>C rs374125947 0.00016
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn) rs202127217 0.00012
NM_000293.3(PHKB):c.1798-20T>C rs758115079 0.00009
NM_000293.3(PHKB):c.321C>T (p.Asp107=) rs148782229 0.00008
NM_000293.3(PHKB):c.2136G>A (p.Pro712=) rs200274360 0.00006
NM_000293.3(PHKB):c.1972-7G>A rs765332910 0.00005
NM_000293.3(PHKB):c.2689T>C (p.Leu897=) rs369059693 0.00004
NM_000293.3(PHKB):c.2958G>A (p.Thr986=) rs748651257 0.00004
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu) rs373920188 0.00004
NM_000293.3(PHKB):c.870+10T>A rs144932435 0.00004
NM_000293.3(PHKB):c.2343G>A (p.Ala781=) rs764952326 0.00003
NM_000293.3(PHKB):c.2352C>T (p.Tyr784=) rs570705767 0.00003
NM_000293.3(PHKB):c.1693-3C>T rs372208366 0.00002
NM_000293.3(PHKB):c.2278+15C>G rs201402032 0.00002
NM_000293.3(PHKB):c.1716T>C (p.Thr572=) rs746052855 0.00001
NM_000293.3(PHKB):c.1972-8C>T rs759445171 0.00001
NC_000016.9:g.(47703329_47722951)_(47735435_?)dup
NM_000293.3(PHKB):c.1881-52_1881-49del rs3830242
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.2034-18T>A rs1221263448
NM_000293.3(PHKB):c.2336+4del
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574

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