ClinVar Miner

List of variants in gene PHKA2 reported as benign for not provided

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000292.3(PHKA2):c.1042-116C>T rs12862285 0.15071
NM_000292.3(PHKA2):c.2807-41C>T rs58948019 0.06210
NM_000292.3(PHKA2):c.2517+75C>T rs111609818 0.03784
NM_000292.3(PHKA2):c.1794-72G>A rs16980924 0.03772
NM_000292.3(PHKA2):c.1324+125G>A rs150571290 0.03473
NM_000292.3(PHKA2):c.1460-214T>C rs10521685 0.03333
NM_000292.3(PHKA2):c.919-300A>G rs138100591 0.02949
NM_000292.3(PHKA2):c.2361-12A>C rs148877451 0.02944
NM_000292.3(PHKA2):c.619-115T>A rs111458617 0.02577
NM_000292.3(PHKA2):c.1041+22C>T rs41304737 0.02488
NM_000292.3(PHKA2):c.1460-152C>T rs144498374 0.02188
NM_000292.3(PHKA2):c.3112-61C>T rs144482520 0.02109
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_000292.3(PHKA2):c.3336+76C>T rs140662866 0.01976
NM_000292.3(PHKA2):c.238-88A>G rs114883556 0.01494
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.1246G>A (p.Gly416Arg) rs16980929 0.00520
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660 0.00498
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.-24C>T rs186848251 0.00302
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230 0.00136
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369 0.00135
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
NM_000292.3(PHKA2):c.1964-238T>C rs6633170
NM_000292.3(PHKA2):c.2138-51del rs11291764
NM_000292.3(PHKA2):c.2518-45_2518-44del rs111786099
NM_000292.3(PHKA2):c.285+164del rs1198542984
NM_000292.3(PHKA2):c.3028-328dup rs747588302

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