ClinVar Miner

List of variants reported as likely pathogenic for Multiple acyl-CoA dehydrogenase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 0.00002
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1786G>A (p.Asp596Asn) rs1165102742 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)
NM_000126.4(ETFA):c.422del (p.Pro141fs)
NM_000126.4(ETFA):c.510_511del (p.Thr171fs)
NM_000126.4(ETFA):c.562+1G>T
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.629dup (p.Glu211fs)
NM_000126.4(ETFA):c.665-1G>A
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.963+1del rs746488455
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
NM_001985.3(ETFB):c.214C>T (p.Gln72Ter)
NM_001985.3(ETFB):c.216+2T>C
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001985.3(ETFB):c.632del (p.Pro211fs)
NM_001985.3(ETFB):c.694C>T (p.Gln232Ter)
NM_004453.4(ETFDH):c.1073G>A (p.Arg358Lys) rs796051959
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
NM_004453.4(ETFDH):c.1394_1395del (p.Tyr465fs)
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1437_1438del (p.Gly480fs)
NM_004453.4(ETFDH):c.1448C>A (p.Pro483Gln)
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) rs2150304416
NM_004453.4(ETFDH):c.1690+1G>C
NM_004453.4(ETFDH):c.175+1G>C rs796051961
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34+5G>A
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) rs2150305310
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly) rs549150456
NM_004453.4(ETFDH):c.578A>C (p.Glu193Ala)
NM_004453.4(ETFDH):c.606+4dup
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.679C>T (p.Pro227Ser)
NM_004453.4(ETFDH):c.684+2T>C
NM_004453.4(ETFDH):c.684G>T (p.Lys228Asn)
NM_004453.4(ETFDH):c.789_790dup (p.Ala264fs)
NM_004453.4(ETFDH):c.901del (p.Arg301fs)
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216

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