ClinVar Miner

List of variants in gene OTC reported as likely benign

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NC_000023.11:g.38367438C>T
NM_000531.5(OTC):c.-366A>G rs191615506
NM_000531.5(OTC):c.299-34dupT rs398122026
NM_000531.6(OTC):c.*106G>A rs766318571
NM_000531.6(OTC):c.-48G>T rs182454762
NM_000531.6(OTC):c.114G>A (p.Lys38=) rs1057522000
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.270T>C (p.Ser90=)
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.298+9A>G rs376393166
NM_000531.6(OTC):c.360G>A (p.Val120=) rs768780957
NM_000531.6(OTC):c.540+264C>T rs997341002
NM_000531.6(OTC):c.541-11G>A rs374923521
NM_000531.6(OTC):c.621C>T (p.Ser207=) rs72558415
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.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.867+1061G>T
NM_000531.6(OTC):c.87A>G (p.Gln29=) rs1057524369

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