ClinVar Miner

List of variants in gene OTC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.-359G>A rs5917573 0.69913
NM_001407092.1(OTC):c.-79-582C>T rs5963412 0.69728
NM_000531.3(OTC):c.-441G= rs5917572 0.69636
NM_001407092.1(OTC):c.-79-567G>A rs5963413 0.69374
NM_000531.6(OTC):c.1005+941T>C rs5963419 0.51422
NM_000531.6(OTC):c.540+134G>A rs2272721 0.50169
NM_000531.6(OTC):c.541-63G>A rs2235125 0.46334
NM_000531.6(OTC):c.541-172_541-170dup rs3047852 0.46083
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_000531.6(OTC):c.541-305A>G rs6609709 0.22631
NM_000531.6(OTC):c.1006-70C>T rs12557315 0.18755
NM_000531.6(OTC):c.664-220G>A rs1554993 0.13567
NM_000531.6(OTC):c.-365G>A rs5963030 0.13285
NM_000531.6(OTC):c.540+455A>G rs12855364 0.12268
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_000531.6(OTC):c.78-233G>C rs148036282 0.02409
NM_000531.6(OTC):c.217-200G>A rs7064359 0.02350
NM_000531.6(OTC):c.867+905T>C rs144339942 0.02205
NM_000531.6(OTC):c.540+203C>A rs7057582 0.01817
NM_000531.6(OTC):c.1006-235C>A rs142714285 0.01780
NM_000531.6(OTC):c.540+489A>G rs148514349 0.01609
NC_000023.11:g.38352403G>A rs139948134 0.00735
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.541-214G>A rs189677998 0.00571
NM_000531.6(OTC):c.540+106A>G rs146029887 0.00559
NM_000531.6(OTC):c.540+296G>C rs746940552 0.00548
NM_000531.6(OTC):c.868-177A>T rs190591013 0.00546
NM_000531.6(OTC):c.867+1061G>T rs181507702 0.00533
NM_000531.6(OTC):c.299-147T>G rs183024179 0.00449
NM_000531.6(OTC):c.868-126G>A rs749336683 0.00355
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.534G>A (p.Thr178=) rs775895740 0.00012
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.299-18C>T rs5917586 0.00006
NM_000531.6(OTC):c.541-11G>A rs374923521 0.00006
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.540+264C>T rs997341002 0.00005
NM_000531.6(OTC):c.216+9C>T rs774764719 0.00002
NM_000531.6(OTC):c.717+11T>C rs772850466 0.00002
NM_000531.6(OTC):c.762G>T (p.Ala254=) rs1388386866 0.00002
NM_000531.6(OTC):c.-4G>A rs796052014 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.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000531.6(OTC):c.520G>A (p.Ala174Thr) rs72556281 0.00001
NM_000531.6(OTC):c.847G>C (p.Gly283Arg) rs2068530349 0.00001
NC_000023.11:g.38352178TTCT[1] rs57752938
NM_000531.6(OTC):c.1005+132dup rs3215429
NM_000531.6(OTC):c.114G>A (p.Lys38=) rs1057522000
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.156A>T (p.Glu52Asp) rs72554318
NM_000531.6(OTC):c.197G>A (p.Arg66Lys)
NM_000531.6(OTC):c.216+1del rs886041526
NM_000531.6(OTC):c.216+280ATTT[7] rs200633699
NM_000531.6(OTC):c.217-265del rs11313102
NM_000531.6(OTC):c.217-265dup rs11313102
NM_000531.6(OTC):c.217-266_217-265del rs11313102
NM_000531.6(OTC):c.217-2dup rs796052015
NM_000531.6(OTC):c.258dup (p.Glu87Ter)
NM_000531.6(OTC):c.274C>T (p.Arg92Ter) rs67418243
NM_000531.6(OTC):c.298+1G>T rs68058881
NM_000531.6(OTC):c.298+2T>G rs1555972538
NM_000531.6(OTC):c.298+9A>G rs376393166
NM_000531.6(OTC):c.299-34dup rs398122026
NM_000531.6(OTC):c.322C>G (p.Pro108Ala)
NM_000531.6(OTC):c.354G>A (p.Leu118=) rs1057518540
NM_000531.6(OTC):c.363T>A (p.Asn121Lys)
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.386+1G>A rs66737144
NM_000531.6(OTC):c.422G>A (p.Arg141Gln) rs68026851
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.494A>G (p.Asp165Gly) rs1555975685
NM_000531.6(OTC):c.533C>T (p.Thr178Met) rs72556284
NM_000531.6(OTC):c.540+1G>T rs72556288
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.562_563del (p.Gly188fs) rs796052016
NM_000531.6(OTC):c.583G>A (p.Gly195Arg) rs67294955
NM_000531.6(OTC):c.589G>A (p.Gly197Arg) rs72556301
NM_000531.6(OTC):c.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.615G>C (p.Met205Ile) rs796052012
NM_000531.6(OTC):c.617T>A (p.Met206Lys) rs72558412
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.634G>T (p.Gly212Ter) rs772049322
NM_000531.6(OTC):c.650C>G (p.Ala217Gly) rs72558424
NM_000531.6(OTC):c.662A>G (p.Lys221Arg)
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.664-287C>T rs141787318
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.67C>T (p.Arg23Ter) rs72552300
NM_000531.6(OTC):c.709_712delinsCCT (p.Ala237fs) rs1602033095
NM_000531.6(OTC):c.713A>G (p.Lys238Arg)
NM_000531.6(OTC):c.77+9T>A rs1555971033
NM_000531.6(OTC):c.78-102_78-99del rs771404957
NM_000531.6(OTC):c.78-103dup rs755821521
NM_000531.6(OTC):c.78-208C>T rs141768896
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.868-182dup rs368534980
NM_000531.6(OTC):c.868-183_868-182dup rs368534980
NM_000531.6(OTC):c.868-184_868-182dup rs368534980
NM_000531.6(OTC):c.868-2A>T rs1064796335
NM_000531.6(OTC):c.87A>G (p.Gln29=) rs1057524369
NM_000531.6(OTC):c.919A>G (p.Lys307Glu) rs796052013
NM_000531.6(OTC):c.988A>G (p.Arg330Gly) rs72558478

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