ClinVar Miner

List of variants in gene PHKA2 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
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Total variants: 135
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HGVS dbSNP
NC_000023.11:g.(?_18920012)_(18920221_?)del
NC_000023.11:g.(?_18929208)_(18983952_?)del
NC_000023.11:g.18895137dup
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.1042-1G>A
NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) rs1556007472
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.1138-2A>G rs1601748216
NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter)
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) rs1601747985
NM_000292.3(PHKA2):c.1246-12C>T rs759418361
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) rs1601739229
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655
NM_000292.3(PHKA2):c.1670C>G (p.Thr557Arg) rs201183167
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
NM_000292.3(PHKA2):c.1794-8_1812del rs1556000892
NM_000292.3(PHKA2):c.1896C>T (p.Ser632=) rs139852230
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
NM_000292.3(PHKA2):c.1952C>A (p.Thr651Asn) rs149991825
NM_000292.3(PHKA2):c.1964-3C>T
NM_000292.3(PHKA2):c.1964-7A>G rs376658808
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) rs770108234
NM_000292.3(PHKA2):c.1A>G (p.Met1Val)
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.2137+5G>A rs372314504
NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) rs1569300538
NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) rs1601714299
NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) rs137852286
NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) rs1601780766
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800
NM_000292.3(PHKA2):c.2378_2379del (p.Thr793fs)
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
NM_000292.3(PHKA2):c.2436G>A (p.Gly812=) rs61733281
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
NM_000292.3(PHKA2):c.2465del (p.Leu822fs) rs1569298646
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
NM_000292.3(PHKA2):c.2517+5G>A
NM_000292.3(PHKA2):c.2518-1G>A
NM_000292.3(PHKA2):c.2532G>A (p.Leu844=) rs61729452
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2597+2dup
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) rs1569297379
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
NM_000292.3(PHKA2):c.285+2_285+5del
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677
NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) rs137852285
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) rs1601700586
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3069G>A (p.Val1023=) rs748792637
NM_000292.3(PHKA2):c.3111+14G>T
NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) rs137852287
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) rs1601776523
NM_000292.3(PHKA2):c.3187C>A (p.Arg1063=) rs139136352
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3243C>T (p.Pro1081=) rs150764699
NM_000292.3(PHKA2):c.3282+13G>A rs200925279
NM_000292.3(PHKA2):c.3283-1G>C
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
NM_000292.3(PHKA2):c.3325del (p.Thr1109fs)
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) rs749097024
NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) rs1601689006
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) rs797044921
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) rs1601687244
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459
NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) rs1601776489
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)
NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg) rs1601685360
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3644_3646dup (p.Thr1216_Arg1217insIle)
NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=) rs112249974
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) rs137852292
NM_000292.3(PHKA2):c.395A>C (p.His132Pro) rs137852291
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) rs1601776276
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.421_423del (p.Phe141del) rs587776732
NM_000292.3(PHKA2):c.472A>G (p.Thr158Ala) rs142034171
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290
NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) rs137852295
NM_000292.3(PHKA2):c.717+1G>T rs587776731
NM_000292.3(PHKA2):c.718-2A>G rs1601763099
NM_000292.3(PHKA2):c.718-3C>T rs140662042
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
NM_000292.3(PHKA2):c.750_752del (p.Thr251del) rs587776733
NM_000292.3(PHKA2):c.849T>A (p.Ile283=) rs61733284
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu) rs797044877
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) rs137852289
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
NM_000292.3(PHKA2):c.900_907del (p.Tyr301fs)
NM_000292.3(PHKA2):c.918+1G>A rs1601760689
NM_000292.3(PHKA2):c.93del (p.Leu32fs)
NM_000292.3(PHKA2):c.963C>T (p.Phe321=) rs35010660
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) rs1601758342
PHKA2, 6-BP INS, NT3331

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