ClinVar Miner

List of variants reported as likely pathogenic for Ornithine aminotransferase deficiency

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Total variants: 33
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HGVS dbSNP
NM_000274.3(OAT):c.1031delA (p.Asn344Thrfs) rs386833594
NM_000274.3(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.3(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.3(OAT):c.1181G>A (p.Cys394Tyr) rs386833597
NM_000274.3(OAT):c.1250C>T (p.Pro417Leu) rs121965044
NM_000274.3(OAT):c.1307T>A (p.Ile436Asn) rs386833598
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000274.3(OAT):c.159delC (p.His53Glnfs) rs386833599
NM_000274.3(OAT):c.192_193delAG (p.Gly65Lysfs) rs386833600
NM_000274.3(OAT):c.199+303C>G rs386833601
NM_000274.3(OAT):c.267C>A (p.Asn89Lys) rs386833602
NM_000274.3(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.3(OAT):c.311A>G (p.Gln104Arg) rs386833604
NM_000274.3(OAT):c.362G>A (p.Gly121Asp) rs386833605
NM_000274.3(OAT):c.373_375delGAG (p.Glu125del) rs386833606
NM_000274.3(OAT):c.381dupT (p.Thr128Tyrfs) rs386833607
NM_000274.3(OAT):c.425-2A>G rs386833608
NM_000274.3(OAT):c.425G>A (p.Gly142Glu) rs386833610
NM_000274.3(OAT):c.425_520del (p.Gly142_Ala173del) rs386833609
NM_000274.3(OAT):c.472_486delTATACCGTGAAGGGC (p.Tyr158_Gly162del) rs386833611
NM_000274.3(OAT):c.532_536delTGGGG (p.Trp178Terfs) rs386833612
NM_000274.3(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.3(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.3(OAT):c.698A>G (p.Gln233Arg) rs386833615
NM_000274.3(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.3(OAT):c.748C>T (p.Arg250Ter) rs386833617
NM_000274.3(OAT):c.800C>T (p.Thr267Ile) rs386833618
NM_000274.3(OAT):c.901-2A>G rs386833619
NM_000274.3(OAT):c.952G>A (p.Glu318Lys) rs386833621
NM_000274.3(OAT):c.952delG (p.Glu318Serfs) rs386833620
NM_000274.3(OAT):c.978T>A (p.Asn326Lys) rs386833622
NM_000274.3(OAT):c.991C>T (p.Arg331Ter) rs386833623
NM_000274.3(OAT):c.994G>A (p.Val332Met) rs121965047

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