ClinVar Miner

List of variants reported as benign for 2-methylbutyryl-CoA dehydrogenase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001609.3(ACADSB):c.*1868C>G rs10902868
NM_001609.3(ACADSB):c.*2175A>C rs7909871
NM_001609.3(ACADSB):c.*2331C>G rs7079265
NM_001609.3(ACADSB):c.*2490T>C rs7914164
NM_001609.3(ACADSB):c.*262C>T rs12248515
NM_001609.3(ACADSB):c.*3234C>G rs3763738
NM_001609.3(ACADSB):c.*3819A>G rs3980942
NM_001609.3(ACADSB):c.*4426T>C rs7732
NM_001609.3(ACADSB):c.*4467A>T rs6838
NM_001609.3(ACADSB):c.*545G>A rs1140593
NM_001609.3(ACADSB):c.38G>A (p.Arg13Lys) rs12263012
NM_001609.3(ACADSB):c.639C>T (p.His213=) rs1140591

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