ClinVar Miner

List of variants reported for Ornithine aminotransferase deficiency by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000274.4(OAT):c.1031del (p.Asn344fs) rs386833594
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1181G>A (p.Cys394Tyr) rs386833597
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.267C>A (p.Asn89Lys) rs386833602
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.311A>G (p.Gln104Arg) rs386833604
NM_000274.4(OAT):c.362G>A (p.Gly121Asp) rs386833605
NM_000274.4(OAT):c.370GAG[1] (p.Glu125del) rs386833606
NM_000274.4(OAT):c.381dup (p.Thr128fs) rs386833607
NM_000274.4(OAT):c.425-2A>G rs386833608
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.425G>A (p.Gly142Glu) rs386833610
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del) rs386833611
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000274.4(OAT):c.710G>A (p.Gly237Asp) rs386833616
NM_000274.4(OAT):c.901-2A>G rs386833619
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.978T>A (p.Asn326Lys) rs386833622
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047

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