ClinVar Miner

List of variants reported as likely pathogenic for Multiple acyl-CoA dehydrogenase deficiency

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Total variants: 39
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HGVS dbSNP
NC_000004.11:g.(?_159601599)_(159620302_?)dup
NC_000004.11:g.(?_159601609)_(159620292_?)dup
NM_000126.4(ETFA):c.664+1G>A
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter) rs1475984278
NM_000126.4(ETFA):c.884_886del (p.Thr295del)
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.58-57C>T rs766066977
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1117-1G>A
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471
NM_004453.4(ETFDH):c.1285+1G>A rs767046886
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.1415G>C (p.Gly472Ala)
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser) rs1580423432
NM_004453.4(ETFDH):c.176-2A>T
NM_004453.4(ETFDH):c.1785del (p.Asp596fs)
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232
NM_004453.4(ETFDH):c.296G>A (p.Arg99His)
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.405+3A>G
NM_004453.4(ETFDH):c.406-1G>A
NM_004453.4(ETFDH):c.406-2A>G
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.485_487+13del
NM_004453.4(ETFDH):c.487+1G>A
NM_004453.4(ETFDH):c.488-1G>T
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe)
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850
NM_004453.4(ETFDH):c.831+3A>C
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser)
NM_004453.4(ETFDH):c.973-1G>A rs1580415323
NM_004453.4(ETFDH):c.973-2A>G

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