ClinVar Miner

List of variants in gene PHKA2 reported by GeneDx

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Gene type:
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Total variants: 125
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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.286-145G>A rs45479498 0.02415
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.2908+122T>C rs41311503 0.01525
NM_000292.3(PHKA2):c.238-88A>G rs114883556 0.01494
NM_000292.3(PHKA2):c.1964-141G>A rs73191588 0.01450
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.454+124C>T rs184375879 0.00942
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.1460-117C>G rs145095978 0.00684
NM_000292.3(PHKA2):c.1460-43C>T rs56150148 0.00666
NM_000292.3(PHKA2):c.1964-125C>T rs147289546 0.00657
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.2137+110C>T rs138736857 0.00469
NM_000292.3(PHKA2):c.1137+147C>T rs150022634 0.00461
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974 0.00409
NM_000292.3(PHKA2):c.619-143A>G rs189842554 0.00345
NM_000292.3(PHKA2):c.454+35A>T rs199798526 0.00339
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.2806+13C>A rs186550641 0.00296
NM_000292.3(PHKA2):c.2361-124C>A rs185375050 0.00271
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
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.1964-7A>G rs376658808 0.00126
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.2172T>C (p.Ser724=) rs144151433 0.00083
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352 0.00081
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.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.1363T>C (p.Leu455=) rs199949166 0.00018
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.1246-12C>T rs759418361 0.00012
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000292.3(PHKA2):c.2670C>T (p.Leu890=) rs143721284 0.00011
NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe) rs773591957 0.00009
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.2137+5G>A rs372314504 0.00005
NM_000292.3(PHKA2):c.78+10G>A rs757929891 0.00005
NM_000292.3(PHKA2):c.79-18G>T rs768277331 0.00005
NM_000292.3(PHKA2):c.585G>A (p.Pro195=) rs143424727 0.00004
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.3311T>C (p.Val1104Ala) rs1244348498 0.00002
NM_000292.3(PHKA2):c.2517+3C>T rs1457833439 0.00001
NM_000292.3(PHKA2):c.2556C>T (p.Thr852=) rs746198433 0.00001
NM_000292.3(PHKA2):c.2760C>T (p.Ile920=) rs764158778 0.00001
NM_000292.3(PHKA2):c.3332G>A (p.Arg1111Gln) rs374245493 0.00001
NM_000292.3(PHKA2):c.455-10T>C rs951306454 0.00001
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr) rs749441642 0.00001
NM_000292.3(PHKA2):c.85G>A (p.Val29Ile) rs1085307784 0.00001
NM_000292.3(PHKA2):c.1041+10T>C rs1057522099
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) rs1601748177
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1459+17del rs771238782
NM_000292.3(PHKA2):c.1482G>C (p.Leu494Phe) rs1556002943
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln) rs2048199652
NM_000292.3(PHKA2):c.1604A>G (p.Asp535Gly) rs1556002468
NM_000292.3(PHKA2):c.1715-3T>C rs1556002229
NM_000292.3(PHKA2):c.1715-7T>C rs779269914
NM_000292.3(PHKA2):c.193G>T (p.Ala65Ser) rs2147995123
NM_000292.3(PHKA2):c.1964-238T>C rs6633170
NM_000292.3(PHKA2):c.2138-51del rs11291764
NM_000292.3(PHKA2):c.2138-52_2138-51del rs11291764
NM_000292.3(PHKA2):c.2226+4A>G
NM_000292.3(PHKA2):c.2389G>A (p.Gly797Arg) rs2147859762
NM_000292.3(PHKA2):c.2478C>G (p.Ile826Met) rs2147859233
NM_000292.3(PHKA2):c.2503G>C (p.Glu835Gln) rs1234436850
NM_000292.3(PHKA2):c.2518-45_2518-44del rs111786099
NM_000292.3(PHKA2):c.2597+11A>C rs765266185
NM_000292.3(PHKA2):c.2623A>G (p.Lys875Glu)
NM_000292.3(PHKA2):c.2672del (p.Thr891fs) rs886041795
NM_000292.3(PHKA2):c.2765A>C (p.Gln922Pro)
NM_000292.3(PHKA2):c.2782_2783delinsATGGCACGGAGCC (p.Leu928fs) rs886041985
NM_000292.3(PHKA2):c.2836C>T (p.Leu946Phe)
NM_000292.3(PHKA2):c.285+164del rs1198542984
NM_000292.3(PHKA2):c.2868C>A (p.His956Gln)
NM_000292.3(PHKA2):c.2909-21GT[6] rs781149626
NM_000292.3(PHKA2):c.3027G>A (p.Gln1009=)
NM_000292.3(PHKA2):c.3028-328dup rs747588302
NM_000292.3(PHKA2):c.3286C>T (p.His1096Tyr)
NM_000292.3(PHKA2):c.3313C>T (p.Leu1105Phe)
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.340G>A (p.Ala114Thr)
NM_000292.3(PHKA2):c.3471C>A (p.Ser1157Arg)
NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del) rs1064794657
NM_000292.3(PHKA2):c.524C>T (p.Ala175Val)
NM_000292.3(PHKA2):c.537+11A>C rs1556013935
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.770C>G (p.Ala257Gly)
NM_000292.3(PHKA2):c.79-24del rs372467630
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)

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