ClinVar Miner

List of variants studied for Isovaleryl-CoA dehydrogenase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 89
Download table as spreadsheet
HGVS dbSNP
NC_000015.10:g.(?_40412971)_(40418283_?)del
NC_000015.10:g.(?_40413063)_(40414126_?)del
NC_000015.10:g.(?_40416058)_(40418283_?)del
NC_000015.10:g.(?_40416068)_(40418273_?)del
NC_000015.10:g.(?_40418110)_(40418283_?)del
NC_000015.9:g.(?_40698000)_(40700209_?)del
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696
NM_002225.5(IVD):c.102_103del (p.Val35fs) rs1057517379
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn) rs398123679
NM_002225.5(IVD):c.1069_1070TG[1] (p.Ala358fs)
NM_002225.5(IVD):c.1112T>C (p.Val371Ala) rs754600862
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1122C>T (p.Asp374=) rs372504234
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
NM_002225.5(IVD):c.1139-8G>C rs755640305
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952
NM_002225.5(IVD):c.144+1G>A rs928991928
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>A (p.Arg50His) rs2229311
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686
NM_002225.5(IVD):c.229C>T (p.Leu77=) rs143807229
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.234+9G>A rs369931477
NM_002225.5(IVD):c.243G>A (p.Trp81Ter) rs540375168
NM_002225.5(IVD):c.268T>A (p.Leu90Met) rs780854004
NM_002225.5(IVD):c.286+8T>C rs769702849
NM_002225.5(IVD):c.287-1G>A rs1398838997
NM_002225.5(IVD):c.287-2A>C
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.381del (p.Ala128fs) rs769048174
NM_002225.5(IVD):c.400A>G (p.Ile134Val) rs151118565
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.456+22_510delinsGTTG rs1555403942
NM_002225.5(IVD):c.456+2T>C rs398123683
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.457-3_457-2delinsGG rs786204427
NM_002225.5(IVD):c.464_466GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.550+6G>A
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.870del (p.Pro291fs)
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.879-5G>A rs750569823
NM_002225.5(IVD):c.881T>C (p.Leu294Pro) rs1555404933
NM_002225.5(IVD):c.887A>T (p.Gln296Leu) rs1595786862
NM_002225.5(IVD):c.88C>T (p.His30Tyr) rs73383128
NM_002225.5(IVD):c.891G>A (p.Ala297=) rs138427412
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750
NM_002225.5(IVD):c.961-6G>A rs199783007
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.