ClinVar Miner

List of variants in gene PHKA2 reported by PreventionGenetics, part of Exact Sciences

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284 0.01392
NM_000292.3(PHKA2):c.718-3C>T rs140662042 0.01175
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452 0.00939
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281 0.00738
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974 0.00409
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825 0.00332
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171 0.00237
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.1767A>G (p.Leu589=) rs148153758 0.00102
NM_000292.3(PHKA2):c.3027+48C>A rs201339926 0.00093
NM_000292.3(PHKA2):c.2172T>C (p.Ser724=) rs144151433 0.00083
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800 0.00068
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.3615G>A (p.Pro1205=) rs200550207 0.00023
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.3069G>A (p.Val1023=) rs748792637 0.00013
NM_000292.3(PHKA2):c.78+10G>A rs757929891 0.00007
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg) rs140703161 0.00006
NM_000292.3(PHKA2):c.3327G>A (p.Thr1109=) rs768419165 0.00004
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) rs1601748177
NM_000292.3(PHKA2):c.1188G>A (p.Gly396=)
NM_000292.3(PHKA2):c.1505T>C (p.Ile502Thr)
NM_000292.3(PHKA2):c.1746G>T (p.Val582=)
NM_000292.3(PHKA2):c.1811T>C (p.Leu604Pro)
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.2244T>C (p.Phe748=)
NM_000292.3(PHKA2):c.2397C>T (p.His799=)
NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)
NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)
NM_000292.3(PHKA2):c.354C>T (p.Thr118=)
NM_000292.3(PHKA2):c.3565G>A (p.Glu1189Lys)
NM_000292.3(PHKA2):c.420C>G (p.Leu140=)
NM_000292.3(PHKA2):c.42C>T (p.Tyr14=)
NM_000292.3(PHKA2):c.808G>A (p.Val270Met)

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