ClinVar Miner

List of variants reported as uncertain significance for Isovaleryl-CoA dehydrogenase deficiency by Invitae

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ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063 0.00021
NM_002225.5(IVD):c.38C>T (p.Ala13Val) rs189587579 0.00018
NM_002225.5(IVD):c.961T>C (p.Leu321=) rs146011049 0.00011
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986 0.00005
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.1001T>C (p.Met334Thr) rs368041528 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.1009C>T (p.Arg337Trp) rs776608445 0.00001
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln) rs139908696 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.227A>G (p.Asn76Ser) rs1398705262 0.00001
NM_002225.5(IVD):c.263G>A (p.Gly88Asp) rs779579351 0.00001
NM_002225.5(IVD):c.307C>G (p.Leu103Val) rs1465206137 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.710C>T (p.Ser237Phe) rs1891244554 0.00001
NM_002225.5(IVD):c.726G>C (p.Lys242Asn) rs794727857 0.00001
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574 0.00001
NM_002225.5(IVD):c.994C>T (p.Arg332Cys) rs1891643589 0.00001
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1066-20A>G
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
NM_002225.5(IVD):c.107A>G (p.Asp36Gly) rs2141289941
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
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)
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
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.129C>A (p.Ser43Arg) rs918899977
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.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.179A>C (p.His60Pro)
NM_002225.5(IVD):c.17G>A (p.Arg6Gln) rs748160492
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
NM_002225.5(IVD):c.233G>C (p.Arg78Pro) rs771929559
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
NM_002225.5(IVD):c.320A>G (p.Glu107Gly) rs2141323321
NM_002225.5(IVD):c.34G>A (p.Val12Met)
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
NM_002225.5(IVD):c.415C>T (p.Arg139Cys) rs376324882
NM_002225.5(IVD):c.417C>T (p.Arg139=)
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
NM_002225.5(IVD):c.457-3C>T
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
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)
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
NM_002225.5(IVD):c.634G>C (p.Asp212His)
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
NM_002225.5(IVD):c.646G>A (p.Val216Met)
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
NM_002225.5(IVD):c.678T>G (p.Ile226Met) rs1891104586
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
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.817G>A (p.Val273Ile)
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
NM_002225.5(IVD):c.865G>T (p.Gly289Trp) rs568885234
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
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
NM_002225.5(IVD):c.995G>A (p.Arg332His)

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