ClinVar Miner

List of variants reported as uncertain significance for Isovaleryl-CoA dehydrogenase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_002225.5(IVD):c.265G>A (p.Val89Ile) rs768581364 0.00017
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00017
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049 0.00011
NM_002225.5(IVD):c.492G>A (p.Met164Ile) rs748713834 0.00008
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00007
NM_002225.5(IVD):c.48G>C (p.Arg16Ser) rs141376305 0.00006
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002225.5(IVD):c.52C>T (p.Arg18Trp) rs375138989 0.00004
NM_002225.5(IVD):c.379G>A (p.Gly127Ser) rs754570116 0.00003
NM_002225.5(IVD):c.841G>A (p.Asp281Asn) rs369148941 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002225.5(IVD):c.895C>G (p.Leu299Val) rs149247895 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.268T>A (p.Leu90Met) rs780854004 0.00002
NM_002225.5(IVD):c.634G>A (p.Asp212Asn) rs1011144878 0.00002
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00002
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 0.00001
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser) rs766453485 0.00001
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe) rs1282267401 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.124C>G (p.Leu42Val) rs777674887 0.00001
NM_002225.5(IVD):c.129C>A (p.Ser43Arg) rs918899977 0.00001
NM_002225.5(IVD):c.227A>G (p.Asn76Ser) rs1398705262 0.00001
NM_002225.5(IVD):c.25G>T (p.Gly9Trp) rs1307123127 0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp) rs779579351 0.00001
NM_002225.5(IVD):c.298G>A (p.Gly100Ser) rs756016473 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 0.00001
NM_002225.5(IVD):c.34G>A (p.Val12Met) rs763769374 0.00001
NM_002225.5(IVD):c.436A>G (p.Lys146Glu) rs1448656950 0.00001
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117 0.00001
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461 0.00001
NM_002225.5(IVD):c.688G>T (p.Gly230Cys) rs778857245 0.00001
NM_002225.5(IVD):c.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.817G>A (p.Val273Ile) rs372558622 0.00001
NM_002225.5(IVD):c.850C>T (p.Arg284Trp) rs145847749 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_002225.5(IVD):c.995G>A (p.Arg332His) rs745464766 0.00001
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1066-20A>G rs2542759302
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp) rs2542759845
NM_002225.5(IVD):c.107A>G (p.Asp36Gly) rs2141289941
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn) rs1566941619
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser) rs1469021843
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg) rs1891683650
NM_002225.5(IVD):c.1206A>G (p.Ile402Met) rs1891921859
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.1242C>G (p.Ile414Met) rs756694379
NM_002225.5(IVD):c.1256A>G (p.Asn419Ser)
NM_002225.5(IVD):c.125T>A (p.Leu42Gln) rs121434284
NM_002225.5(IVD):c.125T>G (p.Leu42Arg) rs121434284
NM_002225.5(IVD):c.133G>A (p.Glu45Lys) rs1890355188
NM_002225.5(IVD):c.142C>G (p.Gln48Glu) rs771280106
NM_002225.5(IVD):c.144+4A>G
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.179A>C (p.His60Pro) rs2542642978
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.215A>G (p.Asn72Ser) rs753978883
NM_002225.5(IVD):c.229C>G (p.Leu77Val) rs143807229
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.2T>C (p.Met1Thr) rs368860056
NM_002225.5(IVD):c.320A>G (p.Glu107Gly) rs2141323321
NM_002225.5(IVD):c.376T>C (p.Tyr126His) rs12388
NM_002225.5(IVD):c.415C>T (p.Arg139Cys) rs376324882
NM_002225.5(IVD):c.419A>G (p.Asn140Ser) rs1346585286
NM_002225.5(IVD):c.452C>G (p.Pro151Arg) rs368039768
NM_002225.5(IVD):c.457-3C>T rs759264185
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.521T>G (p.Val174Gly) rs1891058364
NM_002225.5(IVD):c.550+6G>A rs1891063818
NM_002225.5(IVD):c.59C>T (p.Pro20Leu) rs764633468
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys) rs758778071
NM_002225.5(IVD):c.634G>C (p.Asp212His) rs1011144878
NM_002225.5(IVD):c.641C>T (p.Ala214Val) rs1891098989
NM_002225.5(IVD):c.646G>A (p.Val216Met) rs1343378731
NM_002225.5(IVD):c.659G>A (p.Arg220Gln) rs1595773441
NM_002225.5(IVD):c.671C>A (p.Ala224Asp) rs2542698337
NM_002225.5(IVD):c.678T>G (p.Ile226Met) rs1891104586
NM_002225.5(IVD):c.71T>C (p.Phe24Ser) rs2542619580
NM_002225.5(IVD):c.721G>A (p.Asp241Asn) rs2141340100
NM_002225.5(IVD):c.772T>G (p.Cys258Gly) rs2141340538
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys) rs764657640
NM_002225.5(IVD):c.835G>A (p.Gly279Arg)
NM_002225.5(IVD):c.853C>G (p.Leu285Val) rs1891485630
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.871C>G (p.Pro291Ala)
NM_002225.5(IVD):c.880C>T (p.Leu294Phe) rs2542747049
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.919C>T (p.His307Tyr) rs2141355545

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.