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

Minimum submission review status:		Collection method:
Minimum conflict level:
		ClinVar version:

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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