ClinVar Miner

List of variants reported as uncertain significance for Deficiency of 2-methylbutyryl-CoA dehydrogenase by Invitae

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Total variants: 25
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HGVS dbSNP
NM_001330174.2(ACADSB):c.-139T>G rs149562178
NM_001330174.2(ACADSB):c.-30A>G rs1375520384
NM_001609.3(ACADSB):c.1128+2_1128+3insTA rs1554874107
NM_001609.3(ACADSB):c.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1168G>A (p.Gly390Arg) rs764095189
NM_001609.3(ACADSB):c.1186A>G (p.Lys396Glu) rs199963793
NM_001609.3(ACADSB):c.1213C>T (p.Arg405Ter) rs200154326
NM_001609.3(ACADSB):c.1271T>C (p.Ile424Thr) rs748926593
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) rs745481903
NM_001609.3(ACADSB):c.334G>A (p.Gly112Arg) rs1564751382
NM_001609.3(ACADSB):c.370G>C (p.Val124Leu) rs375217368
NM_001609.3(ACADSB):c.42G>A (p.Leu14=) rs745863047
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.4(ACADSB):c.1014C>G (p.His338Gln)
NM_001609.4(ACADSB):c.1015G>A (p.Val339Met)
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1128+2dup
NM_001609.4(ACADSB):c.1138C>G (p.Gln380Glu)
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
NM_001609.4(ACADSB):c.20G>T (p.Arg7Leu)
NM_001609.4(ACADSB):c.796G>A (p.Glu266Lys)

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