ClinVar Miner

List of variants in gene PHKB reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000293.3(PHKB):c.594+24T>C rs13336222 0.01368
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_000293.3(PHKB):c.1069-22A>C rs138958556 0.00922
NM_000293.3(PHKB):c.2336+106A>C rs138536671 0.00839
NM_000293.3(PHKB):c.1459-125C>T rs112594584 0.00823
NM_000293.3(PHKB):c.406-90T>C rs79014828 0.00772
NM_000293.3(PHKB):c.513+104T>G rs140069922 0.00769
NM_000293.3(PHKB):c.871-58G>A rs76691519 0.00766
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.1127-14A>G rs185628131 0.00258
NM_000293.3(PHKB):c.1446G>A (p.Arg482=) rs149812232 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
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.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.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.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.1716T>C (p.Thr572=) rs746052855 0.00001
NM_000293.3(PHKB):c.1972-8C>T rs759445171 0.00001
NM_000293.3(PHKB):c.3042C>T (p.Pro1014=) rs149234185 0.00001
NM_000293.3(PHKB):c.1069-58AAT[4] rs548121217
NM_000293.3(PHKB):c.2034-18T>A rs1221263448
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2766-14G>T rs375250621
NM_000293.3(PHKB):c.3144+34del rs5816579

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.