ClinVar Miner

List of variants in gene IVD reported as likely pathogenic for Isovaleryl-CoA dehydrogenase deficiency

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835 0.00013
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.287-1G>A rs1398838997 0.00004
NM_002225.5(IVD):c.1175G>A (p.Arg392His) rs982218848 0.00003
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly) rs398123681 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.205G>A (p.Asp69Asn) rs747273828 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012 0.00001
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp) rs1237032588 0.00001
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311 0.00001
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516 0.00001
NM_002225.5(IVD):c.286+2T>C rs748026507 0.00001
NM_002225.5(IVD):c.349C>T (p.Arg117Ter) rs776015412 0.00001
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174 0.00001
NM_002225.5(IVD):c.397_398del (p.Cys133fs) rs398123682 0.00001
NM_002225.5(IVD):c.456+2T>C rs398123683 0.00001
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684 0.00001
NM_002225.5(IVD):c.784+1G>A rs763471771 0.00001
NM_002225.5(IVD):c.890C>T (p.Ala297Val) rs796051983 0.00001
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.9:g.(?_40702817)_(40708571_?)del
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1066del
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
NM_002225.5(IVD):c.109G>A (p.Asp37Asn) rs2141289961
NM_002225.5(IVD):c.1140del (p.Gly381fs)
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs) rs1555405428
NM_002225.5(IVD):c.122G>A (p.Gly41Glu) rs2141290050
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.145-2A>T
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
NM_002225.5(IVD):c.157_160dup (p.Ala54fs) rs1555403211
NM_002225.5(IVD):c.158T>C (p.Met53Thr) rs1890589984
NM_002225.5(IVD):c.254G>A (p.Gly85Glu) rs2141304438
NM_002225.5(IVD):c.263del (p.Gly88fs)
NM_002225.5(IVD):c.272del (p.Gly91fs)
NM_002225.5(IVD):c.287-2A>C rs781340220
NM_002225.5(IVD):c.287-2A>G rs781340220
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
NM_002225.5(IVD):c.350G>A (p.Arg117Gln) rs145725101
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
NM_002225.5(IVD):c.394del (p.Leu132fs)
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
NM_002225.5(IVD):c.44G>A (p.Trp15Ter) rs907414760
NM_002225.5(IVD):c.457-1G>A
NM_002225.5(IVD):c.457-2A>C
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.457-2A>T rs771914739
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.457C>G (p.Leu153Val) rs763665120
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.466G>A (p.Gly156Ser) rs1555404010
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
NM_002225.5(IVD):c.526A>G (p.Met176Val)
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
NM_002225.5(IVD):c.551-1G>A rs1057517043
NM_002225.5(IVD):c.581del (p.Phe194fs)
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
NM_002225.5(IVD):c.685_687+15del rs2141332016
NM_002225.5(IVD):c.687+1G>C rs2141332035
NM_002225.5(IVD):c.687+2T>C rs2141332040
NM_002225.5(IVD):c.693dup (p.Pro232fs)
NM_002225.5(IVD):c.711dup (p.Lys238Ter) rs1555404426
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
NM_002225.5(IVD):c.744dup (p.Asn249Ter) rs1057516769
NM_002225.5(IVD):c.761_785-762del
NM_002225.5(IVD):c.785-1G>A rs1555404784
NM_002225.5(IVD):c.785-2A>T
NM_002225.5(IVD):c.785-9del
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.878+1G>A rs745629936
NM_002225.5(IVD):c.878+2T>C
NM_002225.5(IVD):c.883A>T (p.Met295Leu) rs1595786853
NM_002225.5(IVD):c.928del (p.Glu310fs)
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
NM_002225.5(IVD):c.960+1G>A
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002225.5(IVD):c.961-1G>T rs1555405067
NM_002225.5(IVD):c.961-2A>G rs1057517056
NM_002225.5(IVD):c.961-2A>T rs1057517056
NM_002225.5(IVD):c.967C>G (p.Gln323Glu) rs1891639284
NM_002225.5(IVD):c.974del (p.Lys325fs) rs1555405070
NM_002225.5(IVD):c.977T>C (p.Met326Thr) rs1891640609
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
NM_002225.5(IVD):c.994del (p.Arg332fs) rs1555405080

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