ClinVar Miner

List of variants in gene OTC reported by Invitae

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Gene type:
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Total variants: 35
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HGVS dbSNP
NC_000023.10:g.(?_38240575)_(38272343_?)del
NC_000023.10:g.(?_38260508)_(38260946_?)del
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.6(OTC):c.116G>A (p.Gly39Asp)
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000531.6(OTC):c.154G>A (p.Glu52Lys) rs66521141
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.292G>A (p.Glu98Lys) rs72554347
NM_000531.6(OTC):c.298+1G>A rs68058881
NM_000531.6(OTC):c.298+2dup rs1555972540
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.307C>T (p.Leu103Phe)
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000531.6(OTC):c.421C>T (p.Arg141Ter) rs67960011
NM_000531.6(OTC):c.452T>C (p.Leu151Pro) rs72556265
NM_000531.6(OTC):c.482A>G (p.Asn161Ser) rs72556271
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.540+265G>A rs1555975756
NM_000531.6(OTC):c.593A>G (p.Asn198Ser) rs72558403
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.663+1G>T rs68170503
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.751T>C (p.Leu251=) rs36005267
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.803T>C (p.Met268Thr) rs72558449
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.814_816GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.944T>A (p.Val315Asp) rs67414444
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473

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