ClinVar Miner

List of variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Genome-Nilou Lab

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001609.4(ACADSB):c.1129-90A>G	rs2421166	0.98530
NM_001609.4(ACADSB):c.38G>A (p.Arg13Lys)	rs12263012	0.30009
NM_001609.4(ACADSB):c.639C>T (p.His213=)	rs1140591	0.22709
NM_001609.4(ACADSB):c.1228+21del	rs11307362

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