ClinVar Miner

List of variants studied for Ornithine carbamoyltransferase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 573
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.-359G>A rs5917573 0.69913
NM_000531.6(OTC):c.77+3054A>G rs4537439 0.48094
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_000531.6(OTC):c.-365G>A rs5963030 0.13285
NM_000531.6(OTC):c.718-14T>C rs55722856 0.05854
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.1005+1133A>G rs56125451 0.02726
NM_000531.6(OTC):c.867+35T>G rs62622415 0.02489
NM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr) rs61636783 0.01205
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267 0.00722
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000531.6(OTC):c.-366A>G rs191615506 0.00354
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402 0.00341
NM_000531.6(OTC):c.-48G>T rs182454762 0.00090
NM_000531.6(OTC):c.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.941A>C (p.Glu314Ala) rs137899554 0.00028
NM_000531.6(OTC):c.663+17C>T rs777660144 0.00024
NM_000531.6(OTC):c.582C>T (p.Ile194=) rs200564773 0.00018
NM_000531.6(OTC):c.*106G>A rs766318571 0.00017
NM_000531.6(OTC):c.*175T>C rs752290309 0.00014
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059 0.00013
NM_000531.6(OTC):c.83G>A (p.Gly28Glu) rs199858968 0.00013
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655 0.00011
NM_000531.6(OTC):c.1006-14T>C rs188215770 0.00010
NM_000531.6(OTC):c.127C>A (p.Leu43Ile) rs72554309 0.00010
NM_000531.6(OTC):c.*105C>T rs1036076773 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417 0.00009
NM_000531.6(OTC):c.675G>A (p.Pro225=) rs376129619 0.00009
NM_000531.6(OTC):c.299-18C>T rs5917586 0.00006
NM_000531.6(OTC):c.541-11G>A rs374923521 0.00006
NM_000531.6(OTC):c.1005+11A>T rs375524303 0.00005
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.148G>A (p.Gly50Arg) rs67486158 0.00005
NM_000531.6(OTC):c.372C>T (p.Leu124=) rs201070935 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_000531.6(OTC):c.299-7dup rs374145788 0.00004
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957 0.00004
NM_000531.6(OTC):c.498G>T (p.Leu166Phe) rs759911602 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
NM_000531.6(OTC):c.*276A>G rs1016109235 0.00003
NM_000531.6(OTC):c.196A>C (p.Arg66=) rs369756595 0.00003
NM_000531.6(OTC):c.270T>C (p.Ser90=) rs72554342 0.00003
NM_000531.6(OTC):c.717+8C>T rs769353645 0.00003
NM_000531.6(OTC):c.963A>G (p.Ser321=) rs1387377929 0.00003
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.272C>T (p.Thr91Ile) rs372906667 0.00002
NM_000531.6(OTC):c.375G>A (p.Thr125=) rs371075231 0.00002
NM_000531.6(OTC):c.380C>T (p.Thr127Met) rs762910963 0.00002
NM_000531.6(OTC):c.403G>A (p.Ala135Thr) rs770910923 0.00002
NM_000531.6(OTC):c.717+11T>C rs772850466 0.00002
NM_000531.6(OTC):c.761C>T (p.Ala254Val) rs781179862 0.00002
NM_000531.6(OTC):c.762G>T (p.Ala254=) rs1388386866 0.00002
NM_000531.6(OTC):c.764A>G (p.His255Arg) rs72558440 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000531.6(OTC):c.808C>G (p.Gln270Glu) rs72558451 0.00002
NM_000531.6(OTC):c.868-16A>G rs767308398 0.00002
NM_000531.6(OTC):c.89C>A (p.Pro30Gln) rs753712951 0.00002
NM_000531.6(OTC):c.906C>T (p.His302=) rs67870244 0.00002
NM_000531.6(OTC):c.105G>A (p.Val35=) rs757207910 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.147C>T (p.Thr49=) rs144153859 0.00001
NM_000531.6(OTC):c.171A>G (p.Leu57=) rs924740805 0.00001
NM_000531.6(OTC):c.217-13C>G rs1465869489 0.00001
NM_000531.6(OTC):c.283T>C (p.Leu95=) rs771474981 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000531.6(OTC):c.345T>C (p.Asp115=) rs755849455 0.00001
NM_000531.6(OTC):c.368G>A (p.Ser123Asn) rs776830576 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.401T>C (p.Met134Thr) rs1380616457 0.00001
NM_000531.6(OTC):c.417G>A (p.Leu139=) rs1416217766 0.00001
NM_000531.6(OTC):c.426G>A (p.Val142=) rs760271775 0.00001
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000531.6(OTC):c.522T>G (p.Ala174=) rs749594331 0.00001
NM_000531.6(OTC):c.540+10T>C rs1333367271 0.00001
NM_000531.6(OTC):c.540+1G>A rs72556288 0.00001
NM_000531.6(OTC):c.556C>T (p.Leu186=) rs1337833268 0.00001
NM_000531.6(OTC):c.567T>C (p.Leu189=) rs1401331899 0.00001
NM_000531.6(OTC):c.591G>A (p.Gly197=) rs1569279948 0.00001
NM_000531.6(OTC):c.609C>T (p.Ser203=) rs1354432045 0.00001
NM_000531.6(OTC):c.618G>A (p.Met206Ile) rs72558413 0.00001
NM_000531.6(OTC):c.627G>A (p.Ala209=) rs745635680 0.00001
NM_000531.6(OTC):c.663+7A>C rs767994989 0.00001
NM_000531.6(OTC):c.66T>C (p.Val22=) rs1237799169 0.00001
NM_000531.6(OTC):c.68G>A (p.Arg23Gln) rs148660170 0.00001
NM_000531.6(OTC):c.708T>C (p.Tyr236=) rs754974144 0.00001
NM_000531.6(OTC):c.717+5G>A rs747637190 0.00001
NM_000531.6(OTC):c.722G>A (p.Gly241Asp) rs1461226043 0.00001
NM_000531.6(OTC):c.736C>G (p.Leu246Val) rs1168053730 0.00001
NM_000531.6(OTC):c.77+7G>A rs745462108 0.00001
NM_000531.6(OTC):c.774T>C (p.Asn258=) rs777282515 0.00001
NM_000531.6(OTC):c.777A>G (p.Val259=) rs1231550367 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NM_000531.6(OTC):c.867+8T>C rs1190812009 0.00001
NM_000531.6(OTC):c.868-14C>T rs1488225008 0.00001
NM_000531.6(OTC):c.896C>T (p.Thr299Ile) rs756772340 0.00001
NM_000531.6(OTC):c.945C>A (p.Val315=) rs1296441032 0.00001
NC_000023.10:g.(?_30326313)_(41000684_?)del
NC_000023.10:g.(?_37545215)_(38280335_?)del
NC_000023.10:g.(?_37639262)_(38212036_?)dup
NC_000023.10:g.(?_38128879)_(38280335_?)del
NC_000023.10:g.(?_38128879)_(38280335_?)dup
NC_000023.10:g.(?_38210736)_(38281703_?)del
NC_000023.10:g.(?_38211793)_(38212046_?)del
NC_000023.10:g.(?_38229029)_(38229150_?)del
NC_000023.10:g.(?_38240585)_(38272343_?)del
NC_000023.10:g.(?_38262851)_(38263013_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)del
NC_000023.11:g.(?_38352331)_(38352793_?)dup
NC_000023.11:g.(?_38367271)_(38367449_?)del
NC_000023.11:g.(?_38381322)_(38413090_?)del
NC_000023.11:g.(?_38401255)_(38401693_?)del
NM_000531.5(OTC):c.-106C>A rs749748052
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.5:c.(386+1_387-1)_(1005+1_1006-1)del
NM_000531.6(OTC):c.1002C>A (p.Ile334=)
NM_000531.6(OTC):c.1005+12A>G
NM_000531.6(OTC):c.1005+20T>C
NM_000531.6(OTC):c.1005G>A (p.Met335Ile) rs281865553
NM_000531.6(OTC):c.1006-13G>A
NM_000531.6(OTC):c.1006-2A>G
NM_000531.6(OTC):c.1006-6C>T rs2147349912
NM_000531.6(OTC):c.1008T>A (p.Ala336=)
NM_000531.6(OTC):c.1009G>T (p.Val337Phe) rs72558487
NM_000531.6(OTC):c.1012A>C (p.Met338Leu)
NM_000531.6(OTC):c.1015G>A (p.Val339Met) rs72558488
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.1020C>T (p.Ser340=)
NM_000531.6(OTC):c.1020_1028del (p.Leu341_Thr343del) rs2068592611
NM_000531.6(OTC):c.1025T>C (p.Leu342Pro) rs2068592679
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
NM_000531.6(OTC):c.1028C>G (p.Thr343Arg) rs72558491
NM_000531.6(OTC):c.1031A>T (p.Asp344Val)
NM_000531.6(OTC):c.1033T>C (p.Tyr345His) rs66469337
NM_000531.6(OTC):c.1033T>G (p.Tyr345Asp) rs66469337
NM_000531.6(OTC):c.1034A>T (p.Tyr345Phe)
NM_000531.6(OTC):c.1039C>T (p.Pro347Ser)
NM_000531.6(OTC):c.1040C>G (p.Pro347Arg)
NM_000531.6(OTC):c.1052del (p.Lys351fs) rs2068592875
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly) rs2147349974
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
NM_000531.6(OTC):c.114G>A (p.Lys38=) rs1057522000
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.116G>C (p.Gly39Ala) rs1602014500
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.119G>T (p.Arg40Leu)
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.125T>A (p.Leu42His)
NM_000531.6(OTC):c.125_126delinsAC (p.Leu42His)
NM_000531.6(OTC):c.128T>C (p.Leu43Pro) rs2068301622
NM_000531.6(OTC):c.131C>T (p.Thr44Ile) rs72554310
NM_000531.6(OTC):c.132T>C (p.Thr44=)
NM_000531.6(OTC):c.134T>C (p.Leu45Pro) rs72554312
NM_000531.6(OTC):c.134T>G (p.Leu45Arg)
NM_000531.6(OTC):c.139A>C (p.Asn47His)
NM_000531.6(OTC):c.140A>T (p.Asn47Ile) rs67939655
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.140del (p.Asn47fs) rs72554313
NM_000531.6(OTC):c.144T>C (p.Phe48=)
NM_000531.6(OTC):c.145A>C (p.Thr49Pro) rs72554316
NM_000531.6(OTC):c.145A>T (p.Thr49Ser)
NM_000531.6(OTC):c.146C>T (p.Thr49Ile)
NM_000531.6(OTC):c.147C>G (p.Thr49=) rs144153859
NM_000531.6(OTC):c.148G>T (p.Gly50Ter) rs67486158
NM_000531.6(OTC):c.149G>C (p.Gly50Ala) rs201802621
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.154G>T (p.Glu52Ter) rs66521141
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.162A>G (p.Lys54=) rs2147323601
NM_000531.6(OTC):c.174G>A (p.Trp58Ter) rs72554322
NM_000531.6(OTC):c.177dup (p.Ser60fs) rs2068302240
NM_000531.6(OTC):c.179C>A (p.Ser60Ter)
NM_000531.6(OTC):c.188T>C (p.Leu63Pro) rs72554324
NM_000531.6(OTC):c.195T>C (p.Phe65=)
NM_000531.6(OTC):c.205C>T (p.Gln69Ter) rs72554326
NM_000531.6(OTC):c.208A>T (p.Lys70Ter)
NM_000531.6(OTC):c.210A>G (p.Lys70=)
NM_000531.6(OTC):c.214G>A (p.Glu72Lys) rs2068302412
NM_000531.6(OTC):c.216+10A>G rs1473033144
NM_000531.6(OTC):c.216+15C>A
NM_000531.6(OTC):c.216+15C>T
NM_000531.6(OTC):c.216+19T>C
NM_000531.6(OTC):c.216+1G>A rs66693137
NM_000531.6(OTC):c.216+5G>A
NM_000531.6(OTC):c.216+8A>G rs2147323670
NM_000531.6(OTC):c.217-15G>A
NM_000531.6(OTC):c.217-1G>A rs72554327
NM_000531.6(OTC):c.217-2A>G rs2068314699
NM_000531.6(OTC):c.217-4A>G rs2147324923
NM_000531.6(OTC):c.217-5TA[4] rs759829103
NM_000531.6(OTC):c.229T>C (p.Leu77=)
NM_000531.6(OTC):c.231G>T (p.Leu77Phe) rs72554329
NM_000531.6(OTC):c.236G>A (p.Gly79Glu) rs72554331
NM_000531.6(OTC):c.238A>G (p.Lys80Glu) rs72554332
NM_000531.6(OTC):c.241T>C (p.Ser81Pro) rs2147324956
NM_000531.6(OTC):c.242C>T (p.Ser81Phe) rs2068314927
NM_000531.6(OTC):c.244T>C (p.Leu82=) rs1356711812
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.259G>A (p.Glu87Lys) rs72554338
NM_000531.6(OTC):c.25T>C (p.Leu9=) rs1440140895
NM_000531.6(OTC):c.261_262del (p.Arg89fs)
NM_000531.6(OTC):c.262A>T (p.Lys88Ter)
NM_000531.6(OTC):c.264AAG[1] (p.Arg89del) rs2068315148
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) rs67418243
NM_000531.6(OTC):c.275G>A (p.Arg92Gln) rs66550389
NM_000531.6(OTC):c.281G>C (p.Arg94Thr) rs72554345
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+14C>G
NM_000531.6(OTC):c.298+18T>A
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+1del rs2068315570
NM_000531.6(OTC):c.298+2T>C
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+3_298+6del rs2068315608
NM_000531.6(OTC):c.298+8C>T
NM_000531.6(OTC):c.298G>T (p.Gly100Cys) rs2068315546
NM_000531.6(OTC):c.299-11T>C
NM_000531.6(OTC):c.299-16T>C
NM_000531.6(OTC):c.299-18del
NM_000531.6(OTC):c.299-2A>G rs2147330536
NM_000531.6(OTC):c.299-5T>C rs377576551
NM_000531.6(OTC):c.299-7A>T
NM_000531.6(OTC):c.299-8del rs764551624
NM_000531.6(OTC):c.299-8dup rs764551624
NM_000531.6(OTC):c.299-9_299-8dup
NM_000531.6(OTC):c.29_32del (p.Asn10fs) rs72552297
NM_000531.6(OTC):c.2T>C (p.Met1Thr) rs72552295
NM_000531.6(OTC):c.303T>C (p.Phe101=)
NM_000531.6(OTC):c.303del (p.Phe101fs) rs1400669703
NM_000531.6(OTC):c.306A>T (p.Ala102=)
NM_000531.6(OTC):c.307C>T (p.Leu103Phe) rs779154479
NM_000531.6(OTC):c.30C>T (p.Asn10=)
NM_000531.6(OTC):c.311T>A (p.Leu104Gln)
NM_000531.6(OTC):c.323C>G (p.Pro108Arg)
NM_000531.6(OTC):c.327T>A (p.Cys109Ter) rs2068375565
NM_000531.6(OTC):c.32A>G (p.Asn11Ser)
NM_000531.6(OTC):c.332T>C (p.Leu111Pro) rs1800324
NM_000531.6(OTC):c.33T>C (p.Asn11=) rs2147315497
NM_000531.6(OTC):c.344A>G (p.Asp115Gly)
NM_000531.6(OTC):c.348T>A (p.Ile116=)
NM_000531.6(OTC):c.350A>C (p.His117Pro)
NM_000531.6(OTC):c.352T>C (p.Leu118=) rs2068375753
NM_000531.6(OTC):c.357T>C (p.Gly119=) rs2068375897
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.369T>A (p.Ser123Arg)
NM_000531.6(OTC):c.370C>T (p.Leu124Phe)
NM_000531.6(OTC):c.376G>A (p.Asp126Asn)
NM_000531.6(OTC):c.381G>A (p.Thr127=)
NM_000531.6(OTC):c.386+10T>A rs2068376461
NM_000531.6(OTC):c.386+9A>G
NM_000531.6(OTC):c.386+9del
NM_000531.6(OTC):c.386G>A (p.Arg129His) rs66656800
NM_000531.6(OTC):c.387-11G>A rs2147341204
NM_000531.6(OTC):c.387-18T>C
NM_000531.6(OTC):c.387-19T>G
NM_000531.6(OTC):c.387-1G>A rs1602029522
NM_000531.6(OTC):c.387-2A>T rs66556380
NM_000531.6(OTC):c.387-5C>A rs2147341209
NM_000531.6(OTC):c.387T>C (p.Arg129=)
NM_000531.6(OTC):c.395C>A (p.Ser132Tyr) rs72556254
NM_000531.6(OTC):c.396T>C (p.Ser132=) rs1602029553
NM_000531.6(OTC):c.3G>A (p.Met1Ile) rs72552296
NM_000531.6(OTC):c.403G>C (p.Ala135Pro) rs770910923
NM_000531.6(OTC):c.403del (p.Ala135fs) rs72556255
NM_000531.6(OTC):c.407A>T (p.Asp136Val) rs72556257
NM_000531.6(OTC):c.415T>C (p.Leu139=)
NM_000531.6(OTC):c.416T>C (p.Leu139Ser) rs72556259
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.419C>T (p.Ala140Val) rs2147341270
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.425T>G (p.Val142Gly) rs72556261
NM_000531.6(OTC):c.429T>A (p.Tyr143Ter) rs145777402
NM_000531.6(OTC):c.433C>A (p.Gln145Lys) rs753584565
NM_000531.6(OTC):c.435A>G (p.Gln145=)
NM_000531.6(OTC):c.437C>A (p.Ser146Ter)
NM_000531.6(OTC):c.439G>C (p.Asp147His)
NM_000531.6(OTC):c.441T>C (p.Asp147=) rs2147341316
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) rs67016166
NM_000531.6(OTC):c.444G>C (p.Leu148Phe) rs66741318
NM_000531.6(OTC):c.448A>G (p.Thr150Ala)
NM_000531.6(OTC):c.448A>T (p.Thr150Ser)
NM_000531.6(OTC):c.449C>A (p.Thr150Asn) rs766735977
NM_000531.6(OTC):c.449C>T (p.Thr150Ile) rs766735977
NM_000531.6(OTC):c.450C>T (p.Thr150=)
NM_000531.6(OTC):c.451del (p.Leu151fs) rs72556264
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.452T>G (p.Leu151Arg) rs72556265
NM_000531.6(OTC):c.459A>G (p.Lys153=) rs2147341336
NM_000531.6(OTC):c.460G>T (p.Glu154Ter) rs72556267
NM_000531.6(OTC):c.465A>G (p.Ala155=) rs2147341344
NM_000531.6(OTC):c.473C>G (p.Pro158Arg) rs2068485732
NM_000531.6(OTC):c.473C>T (p.Pro158Leu) rs2068485732
NM_000531.6(OTC):c.474A>G (p.Pro158=) rs2147341354
NM_000531.6(OTC):c.477T>G (p.Ile159Met)
NM_000531.6(OTC):c.478A>T (p.Ile160Phe) rs2147341364
NM_000531.6(OTC):c.480C>G (p.Ile160Met)
NM_000531.6(OTC):c.480C>T (p.Ile160=) rs2147341370
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.483T>C (p.Asn161=) rs72558497
NM_000531.6(OTC):c.484G>A (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.484G>C (p.Gly162Arg) rs66626662
NM_000531.6(OTC):c.485G>C (p.Gly162Ala) rs72556272
NM_000531.6(OTC):c.485G>T (p.Gly162Val) rs72556272
NM_000531.6(OTC):c.487C>T (p.Leu163=) rs2147341395
NM_000531.6(OTC):c.488T>A (p.Leu163Gln) rs2068486155
NM_000531.6(OTC):c.488T>G (p.Leu163Arg) rs2068486155
NM_000531.6(OTC):c.489G>A (p.Leu163=) rs756269281
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) rs1555975685
NM_000531.6(OTC):c.4C>T (p.Leu2=)
NM_000531.6(OTC):c.501C>T (p.Tyr167=)
NM_000531.6(OTC):c.502C>T (p.His168Tyr)
NM_000531.6(OTC):c.503A>G (p.His168Arg) rs66867430
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.505C>T (p.Pro169Ser) rs72556277
NM_000531.6(OTC):c.506C>T (p.Pro169Leu) rs72556278
NM_000531.6(OTC):c.50_53del (p.Gly17fs)
NM_000531.6(OTC):c.510C>T (p.Ile170=)
NM_000531.6(OTC):c.512A>G (p.Gln171Arg)
NM_000531.6(OTC):c.516C>A (p.Ile172=)
NM_000531.6(OTC):c.517C>G (p.Leu173Val) rs1131692152
NM_000531.6(OTC):c.523G>A (p.Asp175Asn) rs2068486828
NM_000531.6(OTC):c.523G>T (p.Asp175Tyr)
NM_000531.6(OTC):c.528C>T (p.Tyr176=)
NM_000531.6(OTC):c.529C>T (p.Leu177Phe)
NM_000531.6(OTC):c.52C>A (p.His18Asn)
NM_000531.6(OTC):c.530T>C (p.Leu177Pro) rs2068487036
NM_000531.6(OTC):c.530T>G (p.Leu177Arg) rs2068487036
NM_000531.6(OTC):c.531C>G (p.Leu177=)
NM_000531.6(OTC):c.531C>T (p.Leu177=)
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.535C>G (p.Leu179Val) rs2068487136
NM_000531.6(OTC):c.535C>T (p.Leu179Phe) rs2068487136
NM_000531.6(OTC):c.537C>G (p.Leu179=)
NM_000531.6(OTC):c.539A>C (p.Gln180Pro) rs2147341500
NM_000531.6(OTC):c.540+16del
NM_000531.6(OTC):c.540+17G>A
NM_000531.6(OTC):c.540+17G>T
NM_000531.6(OTC):c.540+1G>C rs72556288
NM_000531.6(OTC):c.540+1G>T rs72556288
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.540+5G>C
NM_000531.6(OTC):c.540G>C (p.Gln180His) rs72556287
NM_000531.6(OTC):c.541-12C>A rs2068500853
NM_000531.6(OTC):c.541-14C>T
NM_000531.6(OTC):c.546C>T (p.His182=)
NM_000531.6(OTC):c.548A>G (p.Tyr183Cys) rs72556293
NM_000531.6(OTC):c.54C>A (p.His18Gln) rs2147315516
NM_000531.6(OTC):c.54C>T (p.His18=) rs2147315516
NM_000531.6(OTC):c.558G>A (p.Leu186=) rs2147342624
NM_000531.6(OTC):c.562G>A (p.Gly188Ser) rs72556294
NM_000531.6(OTC):c.563G>C (p.Gly188Ala)
NM_000531.6(OTC):c.568dup (p.Thr190fs) rs2068501144
NM_000531.6(OTC):c.570C>T (p.Thr190=)
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.579G>T (p.Trp193Cys) rs2147342649
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.584G>C (p.Gly195Ala) rs2068501410
NM_000531.6(OTC):c.585G>A (p.Gly195=) rs1800327
NM_000531.6(OTC):c.588T>A (p.Asp196Glu) rs2068501518
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.597T>C (p.Asn199=)
NM_000531.6(OTC):c.601C>T (p.Leu201=) rs2147342708
NM_000531.6(OTC):c.602T>C (p.Leu201Pro) rs72558407
NM_000531.6(OTC):c.604C>G (p.His202Asp) rs72558408
NM_000531.6(OTC):c.604C>T (p.His202Tyr) rs72558408
NM_000531.6(OTC):c.607T>C (p.Ser203Pro)
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.609del (p.Ile204fs)
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.614T>A (p.Met205Lys) rs2068501940
NM_000531.6(OTC):c.614T>C (p.Met205Thr) rs2068501940
NM_000531.6(OTC):c.614T>G (p.Met205Arg)
NM_000531.6(OTC):c.617T>A (p.Met206Lys) rs72558412
NM_000531.6(OTC):c.617T>G (p.Met206Arg) rs72558412
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
NM_000531.6(OTC):c.61A>G (p.Met21Val) rs755909408
NM_000531.6(OTC):c.621C>A (p.Ser207Arg) rs72558415
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
NM_000531.6(OTC):c.626C>A (p.Ala209Glu) rs72558417
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
NM_000531.6(OTC):c.629A>C (p.Lys210Thr) rs2068502349
NM_000531.6(OTC):c.629A>T (p.Lys210Ile)
NM_000531.6(OTC):c.633C>T (p.Phe211=) rs2147342757
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
NM_000531.6(OTC):c.635G>T (p.Gly212Val) rs2068502421
NM_000531.6(OTC):c.636A>C (p.Gly212=)
NM_000531.6(OTC):c.641A>G (p.His214Arg)
NM_000531.6(OTC):c.642C>A (p.His214Gln)
NM_000531.6(OTC):c.642C>T (p.His214=) rs1602031079
NM_000531.6(OTC):c.646C>G (p.Gln216Glu) rs72558423
NM_000531.6(OTC):c.652G>C (p.Ala218Pro) rs2068502738
NM_000531.6(OTC):c.653_663del (p.Ala218fs) rs2147342791
NM_000531.6(OTC):c.656C>A (p.Thr219Asn)
NM_000531.6(OTC):c.663+13T>C
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.663+2T>C rs72558427
NM_000531.6(OTC):c.663+7A>G rs767994989
NM_000531.6(OTC):c.663+7_663+10delinsTGCA rs2147342809
NM_000531.6(OTC):c.663+9A>T
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.664-13C>A
NM_000531.6(OTC):c.664-7C>T
NM_000531.6(OTC):c.664-8T>C
NM_000531.6(OTC):c.664-9C>T
NM_000531.6(OTC):c.664G>A (p.Gly222Ser)
NM_000531.6(OTC):c.672G>A (p.Glu224=)
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.674C>A (p.Pro225Gln) rs67120076
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) rs72552300
NM_000531.6(OTC):c.681T>C (p.Ala227=)
NM_000531.6(OTC):c.689C>A (p.Thr230Asn)
NM_000531.6(OTC):c.694T>C (p.Leu232=) rs2147344980
NM_000531.6(OTC):c.699A>C (p.Ala233=)
NM_000531.6(OTC):c.6G>A (p.Leu2=)
NM_000531.6(OTC):c.6G>C (p.Leu2=) rs1602008611
NM_000531.6(OTC):c.701A>G (p.Glu234Gly)
NM_000531.6(OTC):c.714dup (p.Glu239fs)
NM_000531.6(OTC):c.717+13C>T
NM_000531.6(OTC):c.717+15T>C
NM_000531.6(OTC):c.717+17T>G
NM_000531.6(OTC):c.717+1G>A rs66500027
NM_000531.6(OTC):c.717+20A>C
NM_000531.6(OTC):c.717+20A>G
NM_000531.6(OTC):c.717+2T>C rs72558431
NM_000531.6(OTC):c.717+3A>G rs72558432
NM_000531.6(OTC):c.717+8C>G
NM_000531.6(OTC):c.717G>A (p.Glu239=) rs66851495
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.717G>T (p.Glu239Asp)
NM_000531.6(OTC):c.718-11A>C
NM_000531.6(OTC):c.718-17G>A
NM_000531.6(OTC):c.718-18C>A
NM_000531.6(OTC):c.718-18C>T rs55903043
NM_000531.6(OTC):c.726C>T (p.Thr242=) rs2147345076
NM_000531.6(OTC):c.729G>A (p.Lys243=) rs2147345080
NM_000531.6(OTC):c.72_77+18del rs863225061
NM_000531.6(OTC):c.731T>C (p.Leu244Pro) rs72558436
NM_000531.6(OTC):c.732G>C (p.Leu244=) rs2147345085
NM_000531.6(OTC):c.736C>T (p.Leu246=)
NM_000531.6(OTC):c.740C>G (p.Thr247Arg) rs72558437
NM_000531.6(OTC):c.749dup (p.Leu251fs) rs2068529327
NM_000531.6(OTC):c.758C>A (p.Ala253Glu) rs2147345110
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.766G>T (p.Gly256Ter) rs2068529566
NM_000531.6(OTC):c.77+11G>A
NM_000531.6(OTC):c.77+1G>A rs67077695
NM_000531.6(OTC):c.77+20T>C
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.77+5G>A rs72552302
NM_000531.6(OTC):c.77+5G>C rs72552302
NM_000531.6(OTC):c.77+8A>G rs2147315564
NM_000531.6(OTC):c.774T>A (p.Asn258Lys) rs777282515
NM_000531.6(OTC):c.774T>G (p.Asn258Lys)
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.77G>T (p.Arg26Leu) rs68031618
NM_000531.6(OTC):c.78-12C>A
NM_000531.6(OTC):c.78-13T>A
NM_000531.6(OTC):c.78-1G>T rs281865554
NM_000531.6(OTC):c.78-2A>G
NM_000531.6(OTC):c.78-5T>C
NM_000531.6(OTC):c.780_781delinsG (p.Ile261fs) rs2068529696
NM_000531.6(OTC):c.789C>T (p.Asp263=) rs2147345156
NM_000531.6(OTC):c.790A>G (p.Thr264Ala) rs72558444
NM_000531.6(OTC):c.800G>T (p.Ser267Ile)
NM_000531.6(OTC):c.803T>A (p.Met268Lys)
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.804G>C (p.Met268Ile)
NM_000531.6(OTC):c.806G>A (p.Gly269Glu) rs72558450
NM_000531.6(OTC):c.810A>G (p.Gln270=)
NM_000531.6(OTC):c.810AGA[1] (p.Glu273del) rs2147345212
NM_000531.6(OTC):c.811G>C (p.Glu271Gln)
NM_000531.6(OTC):c.813A>G (p.Glu271=)
NM_000531.6(OTC):c.814G>A (p.Glu272Lys) rs2068530106
NM_000531.6(OTC):c.814G>T (p.Glu272Ter)
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.819G>A (p.Glu273=) rs1602033324
NM_000531.6(OTC):c.81T>C (p.Cys27=) rs993705802
NM_000531.6(OTC):c.822G>A (p.Lys274=) rs2147345221
NM_000531.6(OTC):c.822del (p.Lys276fs) rs2147345229
NM_000531.6(OTC):c.826A>T (p.Lys276Ter)
NM_000531.6(OTC):c.828_829delinsAA (p.Lys276_Arg277=) rs2147345235
NM_000531.6(OTC):c.829C>A (p.Arg277=)
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000531.6(OTC):c.831G>T (p.Arg277=) rs2147345248
NM_000531.6(OTC):c.833_864delinsCC (p.Leu278_Met288delinsPro)
NM_000531.6(OTC):c.840T>G (p.Ala280=) rs2147345258
NM_000531.6(OTC):c.844del (p.Gln282fs) rs2068530290
NM_000531.6(OTC):c.845A>G (p.Gln282Arg) rs2068530314
NM_000531.6(OTC):c.846A>G (p.Gln282=) rs2068530338
NM_000531.6(OTC):c.848del (p.Gly283fs)
NM_000531.6(OTC):c.852C>T (p.Tyr284=) rs2147345272
NM_000531.6(OTC):c.853C>T (p.Gln285Ter)
NM_000531.6(OTC):c.860_861dup (p.Met288fs) rs2068530385
NM_000531.6(OTC):c.862A>G (p.Met288Val)
NM_000531.6(OTC):c.863T>G (p.Met288Arg)
NM_000531.6(OTC):c.867+1126A>C
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.867+18T>C
NM_000531.6(OTC):c.867+19C>T
NM_000531.6(OTC):c.867+9T>C
NM_000531.6(OTC):c.867G>A (p.Lys289=) rs72558456
NM_000531.6(OTC):c.868-10A>G
NM_000531.6(OTC):c.868-10A>T rs2147346468
NM_000531.6(OTC):c.868-13C>A
NM_000531.6(OTC):c.868-13C>T
NM_000531.6(OTC):c.868-8C>T
NM_000531.6(OTC):c.870T>C (p.Thr290=) rs794727959
NM_000531.6(OTC):c.885C>A (p.Ala295=) rs974497183
NM_000531.6(OTC):c.889G>A (p.Asp297Asn) rs2068544820
NM_000531.6(OTC):c.88C>T (p.Pro30Ser)
NM_000531.6(OTC):c.897A>C (p.Thr299=) rs2147346527
NM_000531.6(OTC):c.897A>G (p.Thr299=)
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.904C>G (p.His302Asp) rs72558463
NM_000531.6(OTC):c.907T>G (p.Cys303Gly) rs67468335
NM_000531.6(OTC):c.908G>T (p.Cys303Phe)
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.914C>G (p.Pro305Arg) rs67501347
NM_000531.6(OTC):c.915C>A (p.Pro305=)
NM_000531.6(OTC):c.915C>G (p.Pro305=)
NM_000531.6(OTC):c.916A>G (p.Arg306Gly) rs2147346548
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013
NM_000531.6(OTC):c.926AAG[1] (p.Glu310del) rs2068545306
NM_000531.6(OTC):c.929A>T (p.Glu310Val)
NM_000531.6(OTC):c.92T>C (p.Leu31Pro)
NM_000531.6(OTC):c.931G>A (p.Val311Met) rs72558468
NM_000531.6(OTC):c.933G>A (p.Val311=) rs2147346566
NM_000531.6(OTC):c.93A>G (p.Leu31=)
NM_000531.6(OTC):c.943G>A (p.Val315Ile)
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.944T>C (p.Val315Ala) rs67414444
NM_000531.6(OTC):c.944T>G (p.Val315Gly) rs67414444
NM_000531.6(OTC):c.945C>G (p.Val315=)
NM_000531.6(OTC):c.946T>G (p.Phe316Val) rs2068545602
NM_000531.6(OTC):c.951T>C (p.Tyr317=)
NM_000531.6(OTC):c.953CTC[1] (p.Pro319del) rs1555976710
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473
NM_000531.6(OTC):c.959G>A (p.Arg320Gln) rs72558474
NM_000531.6(OTC):c.959G>C (p.Arg320Pro) rs72558474
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354
NM_000531.6(OTC):c.970_979del (p.Phe324fs) rs2147346607
NM_000531.6(OTC):c.972C>T (p.Phe324=)
NM_000531.6(OTC):c.974C>T (p.Pro325Leu) rs1602034625
NM_000531.6(OTC):c.975A>C (p.Pro325=)
NM_000531.6(OTC):c.975A>G (p.Pro325=)
NM_000531.6(OTC):c.976G>A (p.Glu326Lys) rs72558476
NM_000531.6(OTC):c.987C>T (p.Asn329=) rs2068546163
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478
NM_000531.6(OTC):c.990A>G (p.Arg330=)
NM_000531.6(OTC):c.999A>C (p.Thr333=)
OTC, DEL

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