ClinVar Miner

List of variants reported as likely benign for Isovaleryl-CoA dehydrogenase deficiency by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.11C>T (p.Ala4Val) rs148189323 0.00157
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491 0.00093
NM_002225.5(IVD):c.228C>T (p.Asn76=) rs140098686 0.00078
NM_002225.5(IVD):c.961-6G>A rs199783007 0.00030
NM_002225.5(IVD):c.916C>G (p.Leu306Val) rs144418134 0.00026
NM_002225.5(IVD):c.234+16C>T rs750473075 0.00025
NM_002225.5(IVD):c.234+9G>A rs369931477 0.00025
NM_002225.5(IVD):c.879-5G>A rs750569823 0.00014
NM_002225.5(IVD):c.1139-9T>C rs373295135 0.00009
NM_002225.5(IVD):c.903C>T (p.His301=) rs759116078 0.00007
NM_002225.5(IVD):c.234+13G>A rs762088213 0.00006
NM_002225.5(IVD):c.286+8T>C rs769702849 0.00006
NM_002225.5(IVD):c.784+13G>A rs369694967 0.00006
NM_002225.5(IVD):c.111T>C (p.Asp37=) rs887220079 0.00005
NM_002225.5(IVD):c.303C>T (p.Ser101=) rs749482459 0.00005
NM_002225.5(IVD):c.816T>C (p.Gly272=) rs753508865 0.00005
NM_002225.5(IVD):c.1005G>A (p.Ala335=) rs570369496 0.00004
NM_002225.5(IVD):c.1041C>T (p.Cys347=) rs371770434 0.00004
NM_002225.5(IVD):c.784+20G>A rs375795386 0.00004
NM_002225.5(IVD):c.1066-10C>T rs774472099 0.00003
NM_002225.5(IVD):c.1066-4G>A rs374193700 0.00003
NM_002225.5(IVD):c.1139-8G>C rs755640305 0.00003
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313 0.00003
NM_002225.5(IVD):c.576C>T (p.Asn192=) rs756184085 0.00003
NM_002225.5(IVD):c.609C>T (p.Asp203=) rs563452741 0.00003
NM_002225.5(IVD):c.785-9T>C rs374999241 0.00003
NM_002225.5(IVD):c.873T>C (p.Pro291=) rs537402391 0.00003
NM_002225.5(IVD):c.960+8G>A rs531429598 0.00003
NM_002225.5(IVD):c.1138+13C>T rs770658726 0.00002
NM_002225.5(IVD):c.1138+9T>G rs749171166 0.00002
NM_002225.5(IVD):c.1215G>A (p.Gly405=) rs752374036 0.00002
NM_002225.5(IVD):c.219G>A (p.Glu73=) rs748950739 0.00002
NM_002225.5(IVD):c.22C>T (p.Leu8=) rs773816252 0.00002
NM_002225.5(IVD):c.357C>T (p.Ser119=) rs776924775 0.00002
NM_002225.5(IVD):c.483C>T (p.Ala161=) rs751760095 0.00002
NM_002225.5(IVD):c.534C>A (p.Leu178=) rs775318094 0.00002
NM_002225.5(IVD):c.540G>A (p.Ala180=) rs775944806 0.00002
NM_002225.5(IVD):c.897G>A (p.Leu299=) rs751049911 0.00002
NM_002225.5(IVD):c.9T>C (p.Thr3=) rs370886046 0.00002
NM_002225.5(IVD):c.1014G>A (p.Gln338=) rs1891648588 0.00001
NM_002225.5(IVD):c.1026T>C (p.Asn342=) rs1401482066 0.00001
NM_002225.5(IVD):c.1053T>C (p.His351=) rs763091729 0.00001
NM_002225.5(IVD):c.1146T>C (p.Asn382=) rs1419468231 0.00001
NM_002225.5(IVD):c.1185A>G (p.Arg395=) rs375709475 0.00001
NM_002225.5(IVD):c.123G>C (p.Gly41=) rs139179135 0.00001
NM_002225.5(IVD):c.145-5A>G rs746358275 0.00001
NM_002225.5(IVD):c.150T>A (p.Arg50=) rs762440985 0.00001
NM_002225.5(IVD):c.204C>T (p.Ile68=) rs780579571 0.00001
NM_002225.5(IVD):c.235-8G>A rs1035492488 0.00001
NM_002225.5(IVD):c.252G>A (p.Leu84=) rs756466515 0.00001
NM_002225.5(IVD):c.27G>T (p.Gly9=) rs760413553 0.00001
NM_002225.5(IVD):c.297C>T (p.Gly99=) rs377129112 0.00001
NM_002225.5(IVD):c.330G>A (p.Leu110=) rs746017260 0.00001
NM_002225.5(IVD):c.372C>T (p.Leu124=) rs964820890 0.00001
NM_002225.5(IVD):c.453G>A (p.Pro151=) rs535261722 0.00001
NM_002225.5(IVD):c.457-9T>C rs1418302146 0.00001
NM_002225.5(IVD):c.474C>T (p.Tyr158=) rs1033930341 0.00001
NM_002225.5(IVD):c.477C>T (p.Ile159=) rs758187120 0.00001
NM_002225.5(IVD):c.486G>A (p.Leu162=) rs755094829 0.00001
NM_002225.5(IVD):c.57G>A (p.Pro19=) rs1277276427 0.00001
NM_002225.5(IVD):c.666C>T (p.Ile222=) rs772662373 0.00001
NM_002225.5(IVD):c.675C>T (p.Phe225=) rs749242305 0.00001
NM_002225.5(IVD):c.690T>C (p.Gly230=) rs1182189552 0.00001
NM_002225.5(IVD):c.759A>T (p.Leu253=) rs1237759561 0.00001
NM_002225.5(IVD):c.784+12C>T rs572858305 0.00001
NM_002225.5(IVD):c.784+9C>T rs1891254953 0.00001
NM_002225.5(IVD):c.785-4G>A rs369133260 0.00001
NM_002225.5(IVD):c.798G>C (p.Leu266=) rs1263112437 0.00001
NM_002225.5(IVD):c.81G>A (p.Gln27=) rs898534021 0.00001
NM_002225.5(IVD):c.822C>T (p.Tyr274=) rs375580399 0.00001
NM_002225.5(IVD):c.864C>T (p.Ala288=) rs1566939786 0.00001
NM_002225.5(IVD):c.948C>T (p.Ile316=) rs754100750 0.00001
NM_002225.5(IVD):c.960+7C>T rs113361784 0.00001
NM_002225.5(IVD):c.972G>A (p.Gly324=) rs748522492 0.00001
NM_002225.5(IVD):c.-4A>G rs2141288785
NM_002225.5(IVD):c.1005G>C (p.Ala335=) rs570369496
NM_002225.5(IVD):c.1023C>T (p.Tyr341=) rs2141360315
NM_002225.5(IVD):c.1029C>T (p.Val343=) rs896815486
NM_002225.5(IVD):c.102C>G (p.Pro34=) rs2141289869
NM_002225.5(IVD):c.102C>T (p.Pro34=)
NM_002225.5(IVD):c.1044T>C (p.Asp348=) rs2141360469
NM_002225.5(IVD):c.1059T>C (p.Thr353=) rs2141360637
NM_002225.5(IVD):c.1065+11G>C
NM_002225.5(IVD):c.1065+13C>T
NM_002225.5(IVD):c.1065+16A>C
NM_002225.5(IVD):c.1065+19C>T
NM_002225.5(IVD):c.1065+20G>A
NM_002225.5(IVD):c.1065+7G>A rs1238566157
NM_002225.5(IVD):c.1066-18C>G
NM_002225.5(IVD):c.1066-18C>T
NM_002225.5(IVD):c.1066-19C>T
NM_002225.5(IVD):c.1066-4G>T
NM_002225.5(IVD):c.1080G>T (p.Val360=)
NM_002225.5(IVD):c.1092A>G (p.Ser364=) rs2141361852
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
NM_002225.5(IVD):c.1095T>C (p.Ala365=) rs1595790601
NM_002225.5(IVD):c.1104C>T (p.Ala368=) rs1050218
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
NM_002225.5(IVD):c.1107A>G (p.Thr369=) rs1286789645
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
NM_002225.5(IVD):c.1119G>A (p.Leu373=) rs1891680267
NM_002225.5(IVD):c.1138+10C>A
NM_002225.5(IVD):c.1138+13C>A
NM_002225.5(IVD):c.1138+14A>C
NM_002225.5(IVD):c.1138+19C>G
NM_002225.5(IVD):c.1138+20C>T
NM_002225.5(IVD):c.1139-10C>G
NM_002225.5(IVD):c.1139-11C>A
NM_002225.5(IVD):c.1139-11C>G
NM_002225.5(IVD):c.1139-12C>T
NM_002225.5(IVD):c.1139-16C>T
NM_002225.5(IVD):c.1139-18C>T
NM_002225.5(IVD):c.1139-19G>T
NM_002225.5(IVD):c.1139-20T>C
NM_002225.5(IVD):c.1139-4G>A
NM_002225.5(IVD):c.1139-5T>G
NM_002225.5(IVD):c.1139-7G>A rs2141373271
NM_002225.5(IVD):c.114A>G (p.Ala38=)
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
NM_002225.5(IVD):c.1167C>T (p.Pro389=) rs2141373519
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
NM_002225.5(IVD):c.120T>C (p.Asn40=)
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
NM_002225.5(IVD):c.1242C>T (p.Ile414=) rs756694379
NM_002225.5(IVD):c.124C>T (p.Leu42=)
NM_002225.5(IVD):c.126A>C (p.Leu42=)
NM_002225.5(IVD):c.126A>G (p.Leu42=)
NM_002225.5(IVD):c.12G>C (p.Ala4=)
NM_002225.5(IVD):c.144+10C>G rs2141290384
NM_002225.5(IVD):c.144+15C>T
NM_002225.5(IVD):c.144+17C>T
NM_002225.5(IVD):c.144+18C>T
NM_002225.5(IVD):c.144+20del
NM_002225.5(IVD):c.144+7A>C rs1595750832
NM_002225.5(IVD):c.144+8G>A rs1248918125
NM_002225.5(IVD):c.145-10C>T rs1451681639
NM_002225.5(IVD):c.145-14C>T
NM_002225.5(IVD):c.145-19T>C
NM_002225.5(IVD):c.145-7C>T rs2141301246
NM_002225.5(IVD):c.145-8C>G
NM_002225.5(IVD):c.145-8C>T rs1890586123
NM_002225.5(IVD):c.145-9T>C
NM_002225.5(IVD):c.147T>C (p.Leu49=) rs2141301309
NM_002225.5(IVD):c.156C>G (p.Thr52=) rs2141301442
NM_002225.5(IVD):c.15T>C (p.Thr5=) rs2141289023
NM_002225.5(IVD):c.162T>C (p.Ala54=)
NM_002225.5(IVD):c.174G>A (p.Gln58=) rs2141301579
NM_002225.5(IVD):c.177G>A (p.Glu59=)
NM_002225.5(IVD):c.181C>T (p.Leu61=)
NM_002225.5(IVD):c.195C>T (p.Ala65=) rs764288165
NM_002225.5(IVD):c.204C>A (p.Ile68=)
NM_002225.5(IVD):c.225G>A (p.Lys75=) rs1018215813
NM_002225.5(IVD):c.232C>A (p.Arg78=)
NM_002225.5(IVD):c.234+10G>A
NM_002225.5(IVD):c.234+10del rs745874056
NM_002225.5(IVD):c.234+16C>G
NM_002225.5(IVD):c.234+17G>A rs568900608
NM_002225.5(IVD):c.234+17G>C
NM_002225.5(IVD):c.234+25_234+34dup
NM_002225.5(IVD):c.235-13A>G
NM_002225.5(IVD):c.235-15C>T
NM_002225.5(IVD):c.235-20C>T
NM_002225.5(IVD):c.235-5G>C
NM_002225.5(IVD):c.255G>A (p.Gly85=) rs778593528
NM_002225.5(IVD):c.264C>A (p.Gly88=) rs377199313
NM_002225.5(IVD):c.264C>G (p.Gly88=)
NM_002225.5(IVD):c.267A>G (p.Val89=)
NM_002225.5(IVD):c.268T>C (p.Leu90=)
NM_002225.5(IVD):c.270G>A (p.Leu90=)
NM_002225.5(IVD):c.286+14C>G
NM_002225.5(IVD):c.286+16_286+17del rs775497134
NM_002225.5(IVD):c.286+18C>G
NM_002225.5(IVD):c.286+18C>T
NM_002225.5(IVD):c.286+3_286+6dup
NM_002225.5(IVD):c.287-10C>T
NM_002225.5(IVD):c.287-11A>G
NM_002225.5(IVD):c.287-12C>T
NM_002225.5(IVD):c.287-14C>G
NM_002225.5(IVD):c.287-18G>T
NM_002225.5(IVD):c.287-19T>G
NM_002225.5(IVD):c.294T>C (p.Tyr98=) rs2141322944
NM_002225.5(IVD):c.297C>A (p.Gly99=) rs377129112
NM_002225.5(IVD):c.300C>A (p.Gly100=)
NM_002225.5(IVD):c.300C>T (p.Gly100=)
NM_002225.5(IVD):c.306C>A (p.Gly102=) rs1890967563
NM_002225.5(IVD):c.307C>T (p.Leu103=)
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
NM_002225.5(IVD):c.321G>A (p.Glu107=) rs1448958748
NM_002225.5(IVD):c.324T>C (p.His108=)
NM_002225.5(IVD):c.327G>A (p.Val109=)
NM_002225.5(IVD):c.339G>A (p.Glu113=)
NM_002225.5(IVD):c.33T>C (p.Arg11=) rs2141289261
NM_002225.5(IVD):c.360A>G (p.Gly120=) rs2141323670
NM_002225.5(IVD):c.363A>T (p.Ala121=)
NM_002225.5(IVD):c.369G>T (p.Gly123=)
NM_002225.5(IVD):c.36G>A (p.Val12=) rs2141289293
NM_002225.5(IVD):c.378C>T (p.Tyr126=) rs1360239245
NM_002225.5(IVD):c.381T>C (p.Gly127=) rs2141323846
NM_002225.5(IVD):c.384C>A (p.Ala128=) rs2141323906
NM_002225.5(IVD):c.387C>T (p.His129=)
NM_002225.5(IVD):c.402C>T (p.Ile134=)
NM_002225.5(IVD):c.420T>C (p.Asn140=) rs1890984701
NM_002225.5(IVD):c.426T>C (p.Asn142=) rs1025400393
NM_002225.5(IVD):c.432C>G (p.Ala144=) rs1213604093
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.444G>A (p.Lys148=) rs768172531
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
NM_002225.5(IVD):c.456+11G>A
NM_002225.5(IVD):c.456+11G>C
NM_002225.5(IVD):c.456+12G>A
NM_002225.5(IVD):c.456+12G>T
NM_002225.5(IVD):c.456+15A>G
NM_002225.5(IVD):c.457-12T>C
NM_002225.5(IVD):c.457-16G>A
NM_002225.5(IVD):c.457-19T>C
NM_002225.5(IVD):c.457-20G>A
NM_002225.5(IVD):c.457-20G>T
NM_002225.5(IVD):c.457-4G>A rs2141328194
NM_002225.5(IVD):c.457-7C>T rs2141328172
NM_002225.5(IVD):c.459G>C (p.Leu153=) rs372974651
NM_002225.5(IVD):c.462C>A (p.Ile154=)
NM_002225.5(IVD):c.468T>A (p.Gly156=)
NM_002225.5(IVD):c.489C>T (p.Ala163=)
NM_002225.5(IVD):c.495T>C (p.Ser165=)
NM_002225.5(IVD):c.498G>A (p.Glu166=) rs1891054324
NM_002225.5(IVD):c.49C>T (p.Leu17=)
NM_002225.5(IVD):c.504T>C (p.Asn168=) rs1472673106
NM_002225.5(IVD):c.507A>G (p.Ala169=)
NM_002225.5(IVD):c.507A>T (p.Ala169=)
NM_002225.5(IVD):c.513T>C (p.Ser171=) rs2141328958
NM_002225.5(IVD):c.522C>G (p.Val174=)
NM_002225.5(IVD):c.525T>C (p.Ser175=)
NM_002225.5(IVD):c.531G>A (p.Lys177=) rs1891059665
NM_002225.5(IVD):c.550+10C>G rs762786940
NM_002225.5(IVD):c.550+10C>T rs762786940
NM_002225.5(IVD):c.550+17C>T
NM_002225.5(IVD):c.550+18T>G
NM_002225.5(IVD):c.550+19T>G
NM_002225.5(IVD):c.551-17C>T
NM_002225.5(IVD):c.551-5C>T rs762840448
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
NM_002225.5(IVD):c.564C>T (p.Ile188=) rs1171530725
NM_002225.5(IVD):c.588C>T (p.Ile196=) rs2141331170
NM_002225.5(IVD):c.591T>C (p.Thr197=)
NM_002225.5(IVD):c.612C>T (p.Val204=)
NM_002225.5(IVD):c.613C>T (p.Leu205=) rs1891095620
NM_002225.5(IVD):c.624T>C (p.Tyr208=) rs1267359192
NM_002225.5(IVD):c.630G>A (p.Lys210=) rs1337743160
NM_002225.5(IVD):c.633A>C (p.Thr211=)
NM_002225.5(IVD):c.639G>C (p.Leu213=) rs2141331622
NM_002225.5(IVD):c.642T>G (p.Ala214=) rs2141331657
NM_002225.5(IVD):c.66C>G (p.Ala22=) rs2141289538
NM_002225.5(IVD):c.66C>T (p.Ala22=)
NM_002225.5(IVD):c.681G>A (p.Val227=)
NM_002225.5(IVD):c.687+7_687+16del rs975307399
NM_002225.5(IVD):c.687+8T>C rs1426896228
NM_002225.5(IVD):c.687+8T>G rs1426896228
NM_002225.5(IVD):c.688-13G>A rs2141339742
NM_002225.5(IVD):c.688-19C>T
NM_002225.5(IVD):c.688-6G>A rs770402490
NM_002225.5(IVD):c.69C>T (p.Gly23=)
NM_002225.5(IVD):c.6G>T (p.Ala2=)
NM_002225.5(IVD):c.708C>G (p.Thr236=)
NM_002225.5(IVD):c.717G>A (p.Lys239=)
NM_002225.5(IVD):c.720G>A (p.Leu240=) rs2141340085
NM_002225.5(IVD):c.727C>T (p.Leu243=)
NM_002225.5(IVD):c.72C>T (p.Phe24=) rs1403443551
NM_002225.5(IVD):c.732G>A (p.Gly244=)
NM_002225.5(IVD):c.738G>A (p.Arg246=)
NM_002225.5(IVD):c.750C>T (p.Thr250=) rs2141340373
NM_002225.5(IVD):c.762C>A (p.Ile254=)
NM_002225.5(IVD):c.774C>T (p.Cys258=)
NM_002225.5(IVD):c.784+11C>T
NM_002225.5(IVD):c.784+15G>C
NM_002225.5(IVD):c.784+18del
NM_002225.5(IVD):c.784+19C>T
NM_002225.5(IVD):c.784+7A>T
NM_002225.5(IVD):c.785-19C>T
NM_002225.5(IVD):c.785-7C>T rs2141351235
NM_002225.5(IVD):c.789C>T (p.Ala263=)
NM_002225.5(IVD):c.78C>G (p.Ser26=)
NM_002225.5(IVD):c.792C>T (p.Asn264=)
NM_002225.5(IVD):c.795C>T (p.Ile265=)
NM_002225.5(IVD):c.798G>A (p.Leu266=)
NM_002225.5(IVD):c.804T>C (p.His268=)
NM_002225.5(IVD):c.837G>A (p.Gly279=) rs754853734
NM_002225.5(IVD):c.840G>A (p.Leu280=) rs2141351717
NM_002225.5(IVD):c.844C>T (p.Leu282=)
NM_002225.5(IVD):c.846G>A (p.Leu282=)
NM_002225.5(IVD):c.84G>C (p.Arg28=)
NM_002225.5(IVD):c.864C>G (p.Ala288=)
NM_002225.5(IVD):c.870G>A (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.870G>T (p.Gly290=) rs1285915480
NM_002225.5(IVD):c.878+15C>G
NM_002225.5(IVD):c.878+7G>A
NM_002225.5(IVD):c.879-12C>T
NM_002225.5(IVD):c.879-19C>T
NM_002225.5(IVD):c.879-5G>C rs750569823
NM_002225.5(IVD):c.879-7C>T rs2141355100
NM_002225.5(IVD):c.87C>A (p.Ala29=)
NM_002225.5(IVD):c.87C>G (p.Ala29=) rs751297903
NM_002225.5(IVD):c.87C>T (p.Ala29=) rs751297903
NM_002225.5(IVD):c.882C>G (p.Leu294=)
NM_002225.5(IVD):c.888A>G (p.Gln296=)
NM_002225.5(IVD):c.891G>T (p.Ala297=) rs138427412
NM_002225.5(IVD):c.894C>T (p.Val298=) rs1566940284
NM_002225.5(IVD):c.906C>A (p.Thr302=) rs1891560320
NM_002225.5(IVD):c.912C>T (p.Pro304=) rs1324916195
NM_002225.5(IVD):c.921C>T (p.His307=) rs1304408183
NM_002225.5(IVD):c.930A>G (p.Glu310=) rs1209121749
NM_002225.5(IVD):c.954C>T (p.His318=) rs1595787254
NM_002225.5(IVD):c.957C>T (p.Phe319=) rs1197885966
NM_002225.5(IVD):c.960+7C>A
NM_002225.5(IVD):c.961-13C>A
NM_002225.5(IVD):c.961-16A>G
NM_002225.5(IVD):c.961-20T>C
NM_002225.5(IVD):c.961-5C>T
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
NM_002225.5(IVD):c.99G>A (p.Leu33=)

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