ClinVar Miner

List of variants reported as likely pathogenic for Ornithine carbamoyltransferase deficiency

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Total variants: 41
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HGVS dbSNP
NM_000531.5(OTC):c.-115C>T rs1555971008
NM_000531.5(OTC):c.-116C>T rs1555971006
NM_000531.5(OTC):c.-139A>G rs1555971001
NM_000531.5(OTC):c.-142G>A rs1555971000
NM_000531.5(OTC):c.-157T>G rs1555970997
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000531.6(OTC):c.1019C>T (p.Ser340Phe) rs1569282905
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495
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.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.158T>C (p.Ile53Thr) rs66677059
NM_000531.6(OTC):c.254T>C (p.Ile85Thr) rs878853245
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.403G>C (p.Ala135Pro)
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.422G>C (p.Arg141Pro) rs68026851
NM_000531.6(OTC):c.488T>A (p.Leu163Gln)
NM_000531.6(OTC):c.491C>T (p.Ser164Leu) rs72556274
NM_000531.6(OTC):c.493G>C (p.Asp165His) rs72556275
NM_000531.6(OTC):c.505C>G (p.Pro169Ala) rs72556277
NM_000531.6(OTC):c.505C>T (p.Pro169Ser)
NM_000531.6(OTC):c.535C>G (p.Leu179Val)
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.674C>A (p.Pro225Gln)
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.717G>C (p.Glu239Asp) rs66851495
NM_000531.6(OTC):c.77+2dup rs1569270890
NM_000531.6(OTC):c.806G>A (p.Gly269Glu) rs72558450
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.844del (p.Gln282fs)
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
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.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.959G>T (p.Arg320Leu) rs72558474
NM_000531.6(OTC):c.961T>C (p.Ser321Pro) rs1569281354

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