ClinVar Miner

List of variants reported as likely pathogenic for inborn disorder of ornithine metabolism

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_000274.4(OAT):c.1311G>T (p.Leu437Phe) rs1800456 0.00054
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_002860.4(ALDH18A1):c.2177G>A (p.Arg726His) rs773714478 0.00004
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_002860.4(ALDH18A1):c.2294G>A (p.Arg765Gln) rs537043237 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 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.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val) rs121965059 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 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.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_002860.4(ALDH18A1):c.1481C>T (p.Ala494Val) rs762154638 0.00001
NM_002860.4(ALDH18A1):c.2143G>C (p.Asp715His) rs752669339 0.00001
NM_002860.4(ALDH18A1):c.2246G>A (p.Arg749Gln) rs748925635 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro) rs765380273 0.00001
NC_000010.10:g.(?_126089389)_(126090428_?)dup
NM_000274.4(OAT):c.1014+1G>A rs1951414426
NM_000274.4(OAT):c.1015del
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.1159+2T>A
NM_000274.4(OAT):c.1160-1G>C
NM_000274.4(OAT):c.1171dup (p.Trp391fs)
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.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1264G>T (p.Glu422Ter)
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.350dup (p.Asn117fs)
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.450T>A (p.Cys150Ter)
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>A
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.627T>G (p.Tyr209Ter)
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.742G>T (p.Gly248Ter)
NM_000274.4(OAT):c.759C>A (p.Cys253Ter)
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
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.776del (p.Leu259fs) rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs) rs2134456707
NM_000274.4(OAT):c.799_802del (p.Thr267fs)
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
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.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.968dup (p.Tyr323Ter)
NM_000274.4(OAT):c.969C>G (p.Tyr323Ter)
NM_000274.4(OAT):c.96_97del (p.Lys32fs)
NM_000274.4(OAT):c.978T>A (p.Asn326Lys) rs386833622
NM_000274.4(OAT):c.97del (p.Thr33fs)
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
NM_002860.4(ALDH18A1):c.1152+1G>A
NM_002860.4(ALDH18A1):c.1468-2A>C
NM_002860.4(ALDH18A1):c.1596_1600del (p.Val533fs) rs2097844381
NM_002860.4(ALDH18A1):c.177del (p.Lys59fs) rs1555264243
NM_002860.4(ALDH18A1):c.191G>A (p.Arg64His)
NM_002860.4(ALDH18A1):c.1994G>A (p.Arg665Gln)
NM_002860.4(ALDH18A1):c.232G>A (p.Gly78Ser)
NM_002860.4(ALDH18A1):c.2344T>C (p.Tyr782His)
NM_002860.4(ALDH18A1):c.2345A>C (p.Tyr782Ser) rs774047299
NM_002860.4(ALDH18A1):c.377G>A (p.Arg126His)
NM_002860.4(ALDH18A1):c.408C>A (p.Ser136Arg)
NM_002860.4(ALDH18A1):c.727G>C (p.Val243Leu) rs864321669
NM_002860.4(ALDH18A1):c.743G>A (p.Ser248Asn) rs2097873418
NM_002860.4(ALDH18A1):c.809-1G>A rs1202802893
NM_002860.4(ALDH18A1):c.933+1G>A rs2139593958

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