List of variants reported as likely pathogenic for Ornithine aminotransferase deficiency

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		ClinVar version:

Total variants: 79

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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.539G>C (p.Arg180Thr)	rs121965040	0.00008
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	rs121965044	0.00005
NM_000274.4(OAT):c.596C>A (p.Pro199Gln)	rs267606925	0.00003
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser)	rs763915205	0.00002
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp)	rs121965053	0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)	rs386833598	0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys)	rs121965048	0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg)	rs1043163922	0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg)	rs386833615	0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)	rs121965051	0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter)	rs386833617	0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter)	rs1951458291	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
NC_000010.10:g.(?_126089389)_(126090428_?)dup
NM_000274.4(OAT):c.1014+1G>A	rs1951414426
NM_000274.4(OAT):c.1031del (p.Asn344fs)	rs386833594
NM_000274.4(OAT):c.1112dup (p.Arg372fs)
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu)	rs386833595
NM_000274.4(OAT):c.1160-1G>C
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.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.159del (p.His53fs)	rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192_193del (p.Gly65fs)	rs386833600
NM_000274.4(OAT):c.198_199+6delinsTTAA	rs1554867698
NM_000274.4(OAT):c.198del (p.Gly67fs)	rs1432416419
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.424+1G>A
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.461G>T (p.Arg154Leu)	rs121965039
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)	rs386833611
NM_000274.4(OAT):c.473A>C (p.Tyr158Ser)
NM_000274.4(OAT):c.49G>T (p.Gly17Ter)
NM_000274.4(OAT):c.515_516del (p.Phe172fs)	rs2134476898
NM_000274.4(OAT):c.520+1G>T	rs2134476814
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.581dup (p.Tyr194Ter)
NM_000274.4(OAT):c.582C>G (p.Tyr194Ter)
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr)	rs386833614
NM_000274.4(OAT):c.592_601del (p.Gly198fs)
NM_000274.4(OAT):c.630_631insA (p.Asp211fs)
NM_000274.4(OAT):c.648+1G>A	rs1951546023
NM_000274.4(OAT):c.649-1G>C	rs551144161
NM_000274.4(OAT):c.710G>A (p.Gly237Asp)	rs386833616
NM_000274.4(OAT):c.759C>A (p.Cys253Ter)
NM_000274.4(OAT):c.771+2T>C
NM_000274.4(OAT):c.771_771+7del	rs1564731646
NM_000274.4(OAT):c.772-1G>A	rs770390524
NM_000274.4(OAT):c.772-1G>T	rs770390524
NM_000274.4(OAT):c.780del (p.Phe260fs)	rs2134456707
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000274.4(OAT):c.875A>G (p.Lys292Arg)	rs1057518927
NM_000274.4(OAT):c.881_900+51del	rs1951451290
NM_000274.4(OAT):c.889G>T (p.Gly297Cys)
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	rs2134456170
NM_000274.4(OAT):c.899del (p.Pro300fs)
NM_000274.4(OAT):c.900+1G>C
NM_000274.4(OAT):c.901-1G>A	rs1951420329
NM_000274.4(OAT):c.901-2A>G	rs386833619
NM_000274.4(OAT):c.952del (p.Glu318fs)	rs386833620
NM_000274.4(OAT):c.966del (p.Tyr323fs)	rs1951417940
NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)
NM_000274.4(OAT):c.978T>A (p.Asn326Lys)	rs386833622
NM_000274.4(OAT):c.97dup (p.Thr33fs)	rs1375779674
NM_000274.4(OAT):c.980C>G (p.Pro327Arg)	rs1589698958
NM_000274.4(OAT):c.994G>A (p.Val332Met)	rs121965047

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