ClinVar Miner

List of variants studied for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Baylor Genetics

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Total variants: 6
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HGVS dbSNP
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.1228+1G>A
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)

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