ClinVar Miner

List of variants reported for Ornithine carbamoyltransferase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307 0.00005
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.140_141insG (p.Asn47fs) rs72554314
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs) rs72554355
NM_000531.6(OTC):c.418G>C (p.Ala140Pro) rs72556260
NM_000531.6(OTC):c.443T>C (p.Leu148Ser) rs67016166
NM_000531.6(OTC):c.626C>T (p.Ala209Val) rs72558417
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000531.6(OTC):c.77G>A (p.Arg26Gln) rs68031618
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del) rs72558452
NM_000531.6(OTC):c.829C>T (p.Arg277Trp) rs72558454
NM_000531.6(OTC):c.830G>A (p.Arg277Gln) rs66724222
NM_000531.6(OTC):c.844del (p.Gln282fs) rs2068530290
NM_000531.6(OTC):c.853C>T (p.Gln285Ter)
NM_000531.6(OTC):c.860_861dup (p.Met288fs) rs2068530385
NM_000531.6(OTC):c.903A>T (p.Leu301Phe) rs72558462
NM_000531.6(OTC):c.943G>T (p.Val315Phe) rs72558470
NM_000531.6(OTC):c.958C>T (p.Arg320Ter) rs72558473

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