ClinVar Miner

List of variants in gene OTC reported as likely benign for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_000531.6(OTC):c.867+1136C>A rs7050531 0.00723
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.298+5G>C rs72554348 0.00058
NM_000531.6(OTC):c.390A>G (p.Val130=) rs149795059 0.00013
NM_000531.6(OTC):c.534G>A (p.Thr178=) rs775895740 0.00012
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.372C>T (p.Leu124=) rs201070935 0.00005
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415 0.00005
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957 0.00004
NM_000531.6(OTC):c.85C>G (p.Gln29Glu) rs752916728 0.00004
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.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.762G>T (p.Ala254=) rs1388386866 0.00002
NM_000531.6(OTC):c.764A>G (p.His255Arg) rs72558440 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.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.345T>C (p.Asp115=) rs755849455 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.522T>G (p.Ala174=) rs749594331 0.00001
NM_000531.6(OTC):c.540+10T>C rs1333367271 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.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.736C>G (p.Leu246Val) rs1168053730 0.00001
NM_000531.6(OTC):c.77+7G>A rs745462108 0.00001
NM_000531.6(OTC):c.777A>G (p.Val259=) rs1231550367 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
NM_000531.6(OTC):c.1002C>A (p.Ile334=)
NM_000531.6(OTC):c.1002C>T (p.Ile334=)
NM_000531.6(OTC):c.1005+12A>G
NM_000531.6(OTC):c.1006-13G>A
NM_000531.6(OTC):c.1006-6C>T rs2147349912
NM_000531.6(OTC):c.1008T>A (p.Ala336=)
NM_000531.6(OTC):c.1012A>C (p.Met338Leu)
NM_000531.6(OTC):c.1020C>T (p.Ser340=)
NM_000531.6(OTC):c.102A>G (p.Lys34=)
NM_000531.6(OTC):c.10A>G (p.Asn4Asp)
NM_000531.6(OTC):c.114G>A (p.Lys38=) rs1057522000
NM_000531.6(OTC):c.132T>C (p.Thr44=)
NM_000531.6(OTC):c.144T>C (p.Phe48=)
NM_000531.6(OTC):c.147C>G (p.Thr49=) rs144153859
NM_000531.6(OTC):c.149G>C (p.Gly50Ala) rs201802621
NM_000531.6(OTC):c.162A>G (p.Lys54=) rs2147323601
NM_000531.6(OTC):c.195T>C (p.Phe65=)
NM_000531.6(OTC):c.210A>G (p.Lys70=)
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+8A>G rs2147323670
NM_000531.6(OTC):c.216G>A (p.Glu72=)
NM_000531.6(OTC):c.217-14T>C
NM_000531.6(OTC):c.217-15G>A
NM_000531.6(OTC):c.217-15G>C
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.244T>C (p.Leu82=) rs1356711812
NM_000531.6(OTC):c.25T>C (p.Leu9=) rs1440140895
NM_000531.6(OTC):c.298+14C>G
NM_000531.6(OTC):c.298+18T>A
NM_000531.6(OTC):c.298+8C>T
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.299-5T>C rs377576551
NM_000531.6(OTC):c.299-7A>T
NM_000531.6(OTC):c.303T>C (p.Phe101=)
NM_000531.6(OTC):c.306A>T (p.Ala102=)
NM_000531.6(OTC):c.30C>T (p.Asn10=)
NM_000531.6(OTC):c.33T>C (p.Asn11=) rs2147315497
NM_000531.6(OTC):c.348T>A (p.Ile116=)
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.381G>A (p.Thr127=)
NM_000531.6(OTC):c.386+10T>A rs2068376461
NM_000531.6(OTC):c.386+9del
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.387-5C>A rs2147341209
NM_000531.6(OTC):c.396T>C (p.Ser132=) rs1602029553
NM_000531.6(OTC):c.415T>C (p.Leu139=)
NM_000531.6(OTC):c.435A>G (p.Gln145=)
NM_000531.6(OTC):c.441T>C (p.Asp147=) rs2147341316
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.450C>T (p.Thr150=)
NM_000531.6(OTC):c.459A>G (p.Lys153=) rs2147341336
NM_000531.6(OTC):c.465A>G (p.Ala155=) rs2147341344
NM_000531.6(OTC):c.474A>G (p.Pro158=) rs2147341354
NM_000531.6(OTC):c.480C>T (p.Ile160=) rs2147341370
NM_000531.6(OTC):c.483T>C (p.Asn161=) rs72558497
NM_000531.6(OTC):c.487C>T (p.Leu163=) rs2147341395
NM_000531.6(OTC):c.489G>A (p.Leu163=) rs756269281
NM_000531.6(OTC):c.4C>T (p.Leu2=)
NM_000531.6(OTC):c.501C>T (p.Tyr167=)
NM_000531.6(OTC):c.510C>T (p.Ile170=)
NM_000531.6(OTC):c.516C>A (p.Ile172=)
NM_000531.6(OTC):c.528C>T (p.Tyr176=)
NM_000531.6(OTC):c.531C>G (p.Leu177=)
NM_000531.6(OTC):c.531C>T (p.Leu177=)
NM_000531.6(OTC):c.537C>G (p.Leu179=)
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.541-14C>T
NM_000531.6(OTC):c.541-8C>T rs1602030926
NM_000531.6(OTC):c.546C>T (p.His182=)
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.570C>T (p.Thr190=)
NM_000531.6(OTC):c.582C>A (p.Ile194=) rs200564773
NM_000531.6(OTC):c.585G>A (p.Gly195=) rs1800327
NM_000531.6(OTC):c.597T>C (p.Asn199=)
NM_000531.6(OTC):c.601C>T (p.Leu201=) rs2147342708
NM_000531.6(OTC):c.61A>G (p.Met21Val) rs755909408
NM_000531.6(OTC):c.633C>T (p.Phe211=) rs2147342757
NM_000531.6(OTC):c.634G>A (p.Gly212Arg)
NM_000531.6(OTC):c.636A>C (p.Gly212=)
NM_000531.6(OTC):c.642C>T (p.His214=) rs1602031079
NM_000531.6(OTC):c.663+13T>C
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.664-13C>A
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.681T>C (p.Ala227=)
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.717+13C>T
NM_000531.6(OTC):c.717+15T>C
NM_000531.6(OTC):c.717+20A>C
NM_000531.6(OTC):c.717+20A>G
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.718-7A>G
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.732G>C (p.Leu244=) rs2147345085
NM_000531.6(OTC):c.736C>T (p.Leu246=)
NM_000531.6(OTC):c.762G>A (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.77+11G>A
NM_000531.6(OTC):c.77+20T>C
NM_000531.6(OTC):c.77+8A>G rs2147315564
NM_000531.6(OTC):c.78-10C>T
NM_000531.6(OTC):c.78-12C>A
NM_000531.6(OTC):c.78-13T>A
NM_000531.6(OTC):c.78-5T>C
NM_000531.6(OTC):c.789C>T (p.Asp263=) rs2147345156
NM_000531.6(OTC):c.78G>A (p.Arg26=)
NM_000531.6(OTC):c.78G>T (p.Arg26=)
NM_000531.6(OTC):c.810A>G (p.Gln270=)
NM_000531.6(OTC):c.813A>G (p.Glu271=)
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.828_829delinsAA (p.Lys276_Arg277=) rs2147345235
NM_000531.6(OTC):c.829C>A (p.Arg277=)
NM_000531.6(OTC):c.831G>T (p.Arg277=) rs2147345248
NM_000531.6(OTC):c.840T>G (p.Ala280=) rs2147345258
NM_000531.6(OTC):c.846A>G (p.Gln282=) rs2068530338
NM_000531.6(OTC):c.852C>T (p.Tyr284=) rs2147345272
NM_000531.6(OTC):c.867+1126A>C
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.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.897A>C (p.Thr299=) rs2147346527
NM_000531.6(OTC):c.897A>G (p.Thr299=)
NM_000531.6(OTC):c.915C>A (p.Pro305=)
NM_000531.6(OTC):c.915C>G (p.Pro305=)
NM_000531.6(OTC):c.933G>A (p.Val311=) rs2147346566
NM_000531.6(OTC):c.93A>G (p.Leu31=)
NM_000531.6(OTC):c.945C>G (p.Val315=)
NM_000531.6(OTC):c.951T>C (p.Tyr317=)
NM_000531.6(OTC):c.972C>T (p.Phe324=)
NM_000531.6(OTC):c.975A>C (p.Pro325=)
NM_000531.6(OTC):c.975A>G (p.Pro325=)
NM_000531.6(OTC):c.987C>T (p.Asn329=) rs2068546163
NM_000531.6(OTC):c.990A>G (p.Arg330=)
NM_000531.6(OTC):c.999A>C (p.Thr333=)

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