ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 35
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HGVS dbSNP
NC_000010.11:g.(?_123034356)_(123041379_?)del
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.1145C>T (p.Thr382Met) rs772084235
NM_001609.3(ACADSB):c.1154G>A (p.Cys385Tyr) rs1370215763
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.1165A>G (p.Met389Val) rs201877440
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.1187A>C (p.Lys396Thr) rs148640214
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.168A>G (p.Thr56=) rs34221067
NM_001609.3(ACADSB):c.176A>G (p.Asp59Gly) rs1375520384
NM_001609.3(ACADSB):c.260C>T (p.Ser87Leu) rs745481903
NM_001609.3(ACADSB):c.303+1G>A rs147936696
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.443C>T (p.Thr148Ile) rs58639322
NM_001609.3(ACADSB):c.655G>A (p.Val219Met) rs553730391
NM_001609.3(ACADSB):c.67T>G (p.Leu23Val) rs149562178
NM_001609.3(ACADSB):c.786G>A (p.Pro262=) rs76111609
NM_001609.3(ACADSB):c.795C>T (p.Phe265=) rs150619709
NM_001609.3(ACADSB):c.92A>G (p.His31Arg) rs57321698
NM_001609.3(ACADSB):c.958A>T (p.Ile320Leu) rs1554873785
NM_001609.4(ACADSB):c.1060G>A (p.Ala354Thr)
NM_001609.4(ACADSB):c.1101G>A (p.Ala367=) rs145295182
NM_001609.4(ACADSB):c.1102T>C (p.Ser368Pro)
NM_001609.4(ACADSB):c.1232C>T (p.Thr411Met)
NM_001609.4(ACADSB):c.154G>A (p.Ala52Thr)
NM_001609.4(ACADSB):c.375dup (p.Glu126fs) rs756587384
NM_001609.4(ACADSB):c.452G>A (p.Arg151Lys) rs140747102
NM_001609.4(ACADSB):c.653dup (p.Val219fs)
NM_001609.4(ACADSB):c.726G>A (p.Pro242=) rs148114788

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