ClinVar Miner

List of variants studied for Isovaleryl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 52
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HGVS dbSNP
NM_002225.3(IVD):c.-237G>C rs749128466
NM_002225.3(IVD):c.-315C>G rs886051126
NM_002225.3(IVD):c.-39G>A rs114259808
NM_002225.3(IVD):c.-79C>G rs574064968
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.5(IVD):c.*1005T>C rs560096869
NM_002225.5(IVD):c.*1117G>A rs886051132
NM_002225.5(IVD):c.*1213A>T rs886051133
NM_002225.5(IVD):c.*123G>A rs536728525
NM_002225.5(IVD):c.*1471G>A rs4923865
NM_002225.5(IVD):c.*14C>T rs8040294
NM_002225.5(IVD):c.*1577C>G rs11630850
NM_002225.5(IVD):c.*1610C>T rs11630878
NM_002225.5(IVD):c.*1890G>C rs12185076
NM_002225.5(IVD):c.*1893del rs398026948
NM_002225.5(IVD):c.*1898G>A rs886051134
NM_002225.5(IVD):c.*195C>T rs77680513
NM_002225.5(IVD):c.*2005G>A rs886051135
NM_002225.5(IVD):c.*204T>G rs886051127
NM_002225.5(IVD):c.*2070C>T rs187887699
NM_002225.5(IVD):c.*2275T>C rs11790
NM_002225.5(IVD):c.*2285C>G rs114657778
NM_002225.5(IVD):c.*2302G>A rs886051136
NM_002225.5(IVD):c.*2494C>G rs781683880
NM_002225.5(IVD):c.*2559G>A rs532233403
NM_002225.5(IVD):c.*261G>A rs2075624
NM_002225.5(IVD):c.*2630G>A rs28654574
NM_002225.5(IVD):c.*2844T>C rs7207
NM_002225.5(IVD):c.*2850A>G rs147367220
NM_002225.5(IVD):c.*290dup rs529793013
NM_002225.5(IVD):c.*2912G>A rs11557072
NM_002225.5(IVD):c.*3036del rs5812161
NM_002225.5(IVD):c.*338G>A rs879231133
NM_002225.5(IVD):c.*387del rs145781896
NM_002225.5(IVD):c.*447C>G rs79191320
NM_002225.5(IVD):c.*566A>G rs549510775
NM_002225.5(IVD):c.*596G>A rs115034694
NM_002225.5(IVD):c.*611T>G rs886051130
NM_002225.5(IVD):c.*808C>G rs2075625
NM_002225.5(IVD):c.*809G>A rs886051131
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.1066-5C>T rs115077254
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.234+14T>C rs2289331
NM_002225.5(IVD):c.464G>A (p.Ser155Asn) rs140182461
NM_002225.5(IVD):c.618del (p.Ile206fs) rs781630355
NM_002225.5(IVD):c.723C>T (p.Asp241=) rs2229312
NM_002225.5(IVD):c.784+13G>A rs369694967
NM_002225.5(IVD):c.879-5G>A rs750569823
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.916C>G (p.Leu306Val) rs144418134

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