ClinVar Miner

List of variants in gene PHKA2 studied for not provided

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Total variants: 168
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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.2361-124C>A rs185375050 0.00271
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734 0.00207
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.1964-7A>G rs376658808 0.00126
NM_000292.3(PHKA2):c.3027+48C>A rs201339926 0.00093
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.2365C>T (p.Pro789Ser) rs138395800 0.00068
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser) rs145406549 0.00055
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167 0.00038
NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr) rs150445034 0.00037
NM_000292.3(PHKA2):c.295G>A (p.Val99Met) rs200281934 0.00020
NM_000292.3(PHKA2):c.1363T>C (p.Leu455=) rs199949166 0.00018
NM_000292.3(PHKA2):c.1758T>C (p.Ile586=) rs146853190 0.00013
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000292.3(PHKA2):c.3336+24C>T rs751261167 0.00011
NM_000292.3(PHKA2):c.1978C>T (p.Leu660Phe) rs773591957 0.00009
NM_000292.3(PHKA2):c.3443C>T (p.Thr1148Met) rs745667880 0.00009
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_000292.3(PHKA2):c.2137+5G>A rs372314504 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000292.3(PHKA2):c.585G>A (p.Pro195=) rs143424727 0.00004
NM_000292.3(PHKA2):c.1127C>T (p.Pro376Leu) rs753157066 0.00003
NM_000292.3(PHKA2):c.2004G>A (p.Leu668=) rs781745294 0.00003
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp) rs757718008 0.00002
NM_000292.3(PHKA2):c.2272G>A (p.Val758Met) rs1431642322 0.00002
NM_000292.3(PHKA2):c.2485C>G (p.Leu829Val) rs775811276 0.00002
NM_000292.3(PHKA2):c.3311T>C (p.Val1104Ala) rs1244348498 0.00002
NM_000292.3(PHKA2):c.3444G>A (p.Thr1148=) rs774402125 0.00002
NM_000292.3(PHKA2):c.869G>A (p.Arg290His) rs186632999 0.00002
NM_000292.3(PHKA2):c.1333T>C (p.Leu445=) rs200298889 0.00001
NM_000292.3(PHKA2):c.2156C>T (p.Pro719Leu) rs1295120930 0.00001
NM_000292.3(PHKA2):c.226G>A (p.Glu76Lys) rs777332060 0.00001
NM_000292.3(PHKA2):c.2556C>T (p.Thr852=) rs746198433 0.00001
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln) rs201611776 0.00001
NM_000292.3(PHKA2):c.3332G>A (p.Arg1111Gln) rs374245493 0.00001
NM_000292.3(PHKA2):c.400C>T (p.Gln134Ter) rs1286357227 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.721A>G (p.Ile241Val) rs367696431 0.00001
NM_000292.3(PHKA2):c.816T>C (p.Asp272=) rs749586071 0.00001
NM_000292.3(PHKA2):c.85G>A (p.Val29Ile) rs1085307784 0.00001
NM_000292.3(PHKA2):c.1067A>G (p.Glu356Gly)
NM_000292.3(PHKA2):c.10A>G (p.Arg4Gly)
NM_000292.3(PHKA2):c.1137_1137+3dup
NM_000292.3(PHKA2):c.1138G>A (p.Val380Ile)
NM_000292.3(PHKA2):c.1144dup (p.Glu382fs) rs1601748177
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) rs2048317403
NM_000292.3(PHKA2):c.1215C>T (p.Ser405=) rs368320508
NM_000292.3(PHKA2):c.1232C>T (p.Ser411Leu)
NM_000292.3(PHKA2):c.1325-2A>G rs1569310542
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.1346A>G (p.Asn449Ser)
NM_000292.3(PHKA2):c.1387C>T (p.Gln463Ter)
NM_000292.3(PHKA2):c.1460G>A (p.Gly487Glu) rs2147916105
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.1632G>A (p.Arg544=) rs201710031
NM_000292.3(PHKA2):c.1856T>C (p.Leu619Pro)
NM_000292.3(PHKA2):c.193G>T (p.Ala65Ser) rs2147995123
NM_000292.3(PHKA2):c.1964-238T>C rs6633170
NM_000292.3(PHKA2):c.199C>G (p.Arg67Gly)
NM_000292.3(PHKA2):c.1A>G (p.Met1Val) rs2148058081
NM_000292.3(PHKA2):c.2085C>A (p.Ser695=)
NM_000292.3(PHKA2):c.2138-51del rs11291764
NM_000292.3(PHKA2):c.2138-52_2138-51del rs11291764
NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)
NM_000292.3(PHKA2):c.2226+4A>G
NM_000292.3(PHKA2):c.2389G>A (p.Gly797Arg) rs2147859762
NM_000292.3(PHKA2):c.2395del (p.His799fs) rs1555995689
NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)
NM_000292.3(PHKA2):c.2416CTT[1] (p.Leu807del)
NM_000292.3(PHKA2):c.2433dup (p.Gly812fs) rs1555995635
NM_000292.3(PHKA2):c.2442C>T (p.Ala814=)
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.2623A>G (p.Lys875Glu)
NM_000292.3(PHKA2):c.2672del (p.Thr891fs) rs886041795
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.2765A>C (p.Gln922Pro)
NM_000292.3(PHKA2):c.2782_2783delinsATGGCACGGAGCC (p.Leu928fs) rs886041985
NM_000292.3(PHKA2):c.2819C>T (p.Ser940Phe) rs2147851791
NM_000292.3(PHKA2):c.2836C>T (p.Leu946Phe)
NM_000292.3(PHKA2):c.285+164del rs1198542984
NM_000292.3(PHKA2):c.285+1del
NM_000292.3(PHKA2):c.2868C>A (p.His956Gln)
NM_000292.3(PHKA2):c.3027G>A (p.Gln1009=)
NM_000292.3(PHKA2):c.3028-328dup rs747588302
NM_000292.3(PHKA2):c.3058-1G>A rs751364453
NM_000292.3(PHKA2):c.3124C>T (p.Pro1042Ser)
NM_000292.3(PHKA2):c.3140G>A (p.Gly1047Asp)
NM_000292.3(PHKA2):c.3188G>A (p.Arg1063Gln)
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3242C>T (p.Pro1081Leu)
NM_000292.3(PHKA2):c.3286C>T (p.His1096Tyr)
NM_000292.3(PHKA2):c.3304G>T (p.Gly1102Cys)
NM_000292.3(PHKA2):c.3313C>T (p.Leu1105Phe)
NM_000292.3(PHKA2):c.3334G>T (p.Glu1112Ter)
NM_000292.3(PHKA2):c.3337-6T>C
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.340G>A (p.Ala114Thr)
NM_000292.3(PHKA2):c.3453G>C (p.Ser1151=)
NM_000292.3(PHKA2):c.3458C>T (p.Thr1153Met)
NM_000292.3(PHKA2):c.3471C>A (p.Ser1157Arg)
NM_000292.3(PHKA2):c.348C>A (p.Tyr116Ter)
NM_000292.3(PHKA2):c.3508_3510dup (p.Met1170_Ala1171insMet)
NM_000292.3(PHKA2):c.3522G>A (p.Leu1174=) rs1601686918
NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del) rs1064794657
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.3626A>T (p.Tyr1209Phe)
NM_000292.3(PHKA2):c.382G>A (p.Asp128Asn)
NM_000292.3(PHKA2):c.460C>T (p.Arg154Cys)
NM_000292.3(PHKA2):c.505_509del (p.Val169fs) rs2048628868
NM_000292.3(PHKA2):c.524C>T (p.Ala175Val)
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.560G>A (p.Gly187Glu) rs2147972073
NM_000292.3(PHKA2):c.604G>A (p.Val202Ile)
NM_000292.3(PHKA2):c.681G>C (p.Val227=)
NM_000292.3(PHKA2):c.770C>G (p.Ala257Gly)
NM_000292.3(PHKA2):c.79-24del rs372467630
NM_000292.3(PHKA2):c.875G>A (p.Gly292Glu) rs1601760774
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser) rs2147958526
NM_000292.3(PHKA2):c.899G>A (p.Gly300Asp) rs794727954
NM_000292.3(PHKA2):c.901T>C (p.Tyr301His)
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.918G>T (p.Glu306Asp)
NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)

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