List of variants reported as pathogenic for inborn disorder of ornithine metabolism by Labcorp Genetics (formerly Invitae), Labcorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 97

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HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys)	rs762742204	0.00009
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.897C>G (p.Tyr299Ter)	rs121965057	0.00003
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln)	rs121434582	0.00002
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter)	rs200068769	0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn)	rs386833598	0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val)	rs121965059	0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs)	rs1468939642	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.881T>A (p.Leu294His)	rs752974288	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_002860.4(ALDH18A1):c.383G>A (p.Arg128His)	rs768323248	0.00001
NM_002860.4(ALDH18A1):c.754C>T (p.Arg252Ter)	rs758543218	0.00001
NC_000010.10:g.(?_126086501)_(126086681_?)del
NC_000010.10:g.(?_126089399)_(126089563_?)del
NC_000010.10:g.(?_126091476)_(126092509_?)del
NC_000010.10:g.(?_126093995)_(126100239_?)del
NC_000010.10:g.(?_126097101)_(126097544_?)del
NC_000010.10:g.(?_126097101)_(126100750_?)del
NC_000010.10:g.(?_126100603)_(126140009_?)del
NC_000010.10:g.(?_97366519)_(97626140_?)del
NC_000010.10:g.(?_97376214)_(97376391_?)del
NM_000274.4(OAT):c.1001dup (p.Ala335fs)	rs2134452962
NM_000274.4(OAT):c.1078del (p.Leu360fs)	rs1951389692
NM_000274.4(OAT):c.1112dup (p.Arg372fs)
NM_000274.4(OAT):c.1140del (p.Ile380fs)
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter)	rs1285313333
NM_000274.4(OAT):c.1159+1G>A	rs2134450136
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter)	rs2134440659
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs)	rs2134440572
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter)	rs121965036
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter)	rs121965055
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro)	rs121965043
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer)	rs2134440057
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter)	rs121965058
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.198del (p.Gly67fs)	rs1432416419
NM_000274.4(OAT):c.1A>G (p.Met1Val)	rs1283361732
NM_000274.4(OAT):c.1del (p.Met1fs)
NM_000274.4(OAT):c.200-36_222del	rs1564737136
NM_000274.4(OAT):c.304_305del (p.Lys102fs)	rs2134478524
NM_000274.4(OAT):c.3G>A (p.Met1Ile)	rs121965034
NM_000274.4(OAT):c.426del (p.Val143fs)
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
NM_000274.4(OAT):c.472_486del (p.Tyr158_Gly162del)	rs386833611
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
NM_000274.4(OAT):c.49_52dup (p.Val18fs)	rs1554867854
NM_000274.4(OAT):c.515_516del (p.Phe172fs)	rs2134476898
NM_000274.4(OAT):c.525del (p.Asn176fs)
NM_000274.4(OAT):c.533G>A (p.Trp178Ter)	rs267606923
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer)	rs386833612
NM_000274.4(OAT):c.534G>A (p.Trp178Ter)	rs890106099
NM_000274.4(OAT):c.542C>T (p.Thr181Met)	rs386833613
NM_000274.4(OAT):c.576del (p.Ser193fs)	rs2134465433
NM_000274.4(OAT):c.591dup (p.Gly198fs)
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter)	rs121965056
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer)	rs2134460074
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.776del (p.Leu259fs)	rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs)	rs2134456707
NM_000274.4(OAT):c.783del (p.Ile261fs)	rs1195885907
NM_000274.4(OAT):c.812G>A (p.Arg271Lys)	rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter)	rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter)	rs2134456170
NM_000274.4(OAT):c.900+1G>A	rs1589700702
NM_000274.4(OAT):c.952del (p.Glu318fs)	rs386833620
NM_000274.4(OAT):c.966del (p.Tyr323fs)	rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs)	rs1375779674
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
NM_002860.4(ALDH18A1):c.1227dup (p.Asp410fs)
NM_002860.4(ALDH18A1):c.1321C>T (p.Arg441Ter)	rs145289559
NM_002860.4(ALDH18A1):c.1713dup (p.Lys572Ter)
NM_002860.4(ALDH18A1):c.1795del (p.Arg599fs)
NM_002860.4(ALDH18A1):c.1804del (p.Arg602fs)
NM_002860.4(ALDH18A1):c.1993C>T (p.Arg665Ter)
NM_002860.4(ALDH18A1):c.2117_2118del (p.Thr706fs)
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
NM_002860.4(ALDH18A1):c.339del (p.Met113fs)
NM_002860.4(ALDH18A1):c.359T>C (p.Val120Ala)	rs863224945
NM_002860.4(ALDH18A1):c.413G>A (p.Arg138Gln)	rs863225045
NM_002860.4(ALDH18A1):c.467T>G (p.Leu156Ter)
NM_002860.4(ALDH18A1):c.545del (p.Ile182fs)
NM_002860.4(ALDH18A1):c.684dup (p.Ala229fs)
NM_002860.4(ALDH18A1):c.741del (p.Asp247fs)	rs1555262375
NM_002860.4(ALDH18A1):c.755G>A (p.Arg252Gln)	rs864321670

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