ClinVar Miner

List of variants studied for 2-methylbutyryl-CoA dehydrogenase deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 15
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NM_001609.3(ACADSB):c.1014C>T (p.His338=) rs57339164
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly)
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg)
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.655G>A (p.Val219Met)
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785

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