ClinVar Miner

List of variants in gene OTC reported as likely pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 13
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NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.122A>G (p.Asp41Gly) rs74518351
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.535C>T (p.Leu179Phe)
NM_000531.6(OTC):c.577T>C (p.Trp193Arg) rs67284661
NM_000531.6(OTC):c.613A>G (p.Met205Val) rs72558411
NM_000531.6(OTC):c.617T>A (p.Met206Lys)
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.867+1126A>G rs1569281032
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.912G>T (p.Leu304Phe) rs72558465
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474

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