ClinVar Miner

List of variants in gene OTC reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NC_000023.11:g.38352036C>T
NC_000023.11:g.38352051G>A
NC_000023.11:g.38367438C>T
NM_000531.5(OTC):c.-359G>A rs5917573
NM_000531.5(OTC):c.-365G>A rs5963030
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.5(OTC):c.-441A>G rs5917572
NM_000531.5(OTC):c.216+1delG rs886041526
NM_000531.6(OTC):c.-4G>A rs796052014
NM_000531.6(OTC):c.1005+1133A>G
NM_000531.6(OTC):c.1005+941T>C
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.217-2dup rs796052015
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+5G>C rs72554348
NM_000531.6(OTC):c.298+9A>G rs376393166
NM_000531.6(OTC):c.354G>A (p.Leu118=) rs1057518540
NM_000531.6(OTC):c.365A>G (p.Glu122Gly) rs1131691517
NM_000531.6(OTC):c.429T>C (p.Tyr143=) rs145777402
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.520G>A (p.Ala174Thr) rs72556281
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+264C>T rs997341002
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.541-11G>A rs374923521
NM_000531.6(OTC):c.541-305A>G
NM_000531.6(OTC):c.541-63G>A
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.596A>G (p.Asn199Ser) rs72558406
NM_000531.6(OTC):c.615G>C (p.Met205Ile) rs796052012
NM_000531.6(OTC):c.622G>A (p.Ala208Thr) rs72558416
NM_000531.6(OTC):c.626C>G (p.Ala209Gly) rs72558417
NM_000531.6(OTC):c.634G>T (p.Gly212Ter) rs772049322
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.664-220G>A
NM_000531.6(OTC):c.673C>T (p.Pro225Ser) rs72558428
NM_000531.6(OTC):c.717+11T>C rs772850466
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.762G>T (p.Ala254=) rs1388386866
NM_000531.6(OTC):c.77+9T>A rs1555971033
NM_000531.6(OTC):c.78-233G>C
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.867+1061G>T
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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