ClinVar Miner

List of variants in gene PHKA2 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171 0.00237
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000292.3(PHKA2):c.2568G>T (p.Pro856=) rs141034910 0.00115
NM_000292.3(PHKA2):c.3336+17G>A rs199840021 0.00106
NM_000292.3(PHKA2):c.1767A>G (p.Leu589=) rs148153758 0.00102
NM_000292.3(PHKA2):c.1042-17A>G rs368817576 0.00093
NM_000292.3(PHKA2):c.3027+48C>A rs201339926 0.00093
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699 0.00076
NM_000292.3(PHKA2):c.1635C>G (p.Ile545Met) rs148176463 0.00075
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812 0.00045
NM_000292.3(PHKA2):c.1579C>G (p.Gln527Glu) rs17856445 0.00039
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) rs150445034 0.00037
NM_000292.3(PHKA2):c.3244G>A (p.Val1082Met) rs142123423 0.00034
NM_000292.3(PHKA2):c.132G>A (p.Val44=) rs61733285 0.00030
NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=) rs200550207 0.00023
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459 0.00022
NM_000292.3(PHKA2):c.1794-16G>A rs370310260 0.00018
NM_000292.3(PHKA2):c.2807-18C>T rs373513953 0.00015
NM_000292.3(PHKA2):c.2518-5C>T rs201870008 0.00014
NM_000292.3(PHKA2):c.2807-46G>A rs767466942 0.00014
NM_000292.3(PHKA2):c.1758T>C (p.Ile586=) rs146853190 0.00013
NM_000292.3(PHKA2):c.1246-12C>T rs759418361 0.00012
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=) rs143721284 0.00011
NM_000292.3(PHKA2):c.2909-3C>T rs780902293 0.00009
NM_000292.3(PHKA2):c.1793+18T>A rs567115484 0.00007
NM_000292.3(PHKA2):c.78+10G>A rs757929891 0.00007
NM_000292.3(PHKA2):c.79-18G>T rs768277331 0.00005
NM_000292.3(PHKA2):c.3132G>A (p.Ser1044=) rs376018294 0.00003
NM_000292.3(PHKA2):c.3345G>A (p.Pro1115=) rs201620564 0.00003
NM_000292.3(PHKA2):c.2313G>A (p.Ser771=) rs758348456 0.00002
NM_000292.3(PHKA2):c.2517+3C>T rs1457833439 0.00001
NM_000292.3(PHKA2):c.2760C>T (p.Ile920=) rs764158778 0.00001
NM_000292.3(PHKA2):c.455-10T>C rs951306454 0.00001
NM_000292.3(PHKA2):c.1041+10T>C rs1057522099
NM_000292.3(PHKA2):c.1459+17del rs771238782
NM_000292.3(PHKA2):c.1715-3T>C rs1556002229
NM_000292.3(PHKA2):c.1715-7T>C rs779269914
NM_000292.3(PHKA2):c.2597+11A>C rs765266185
NM_000292.3(PHKA2):c.2909-21GT[6] rs781149626
NM_000292.3(PHKA2):c.537+11A>C rs1556013935

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.