ClinVar Miner

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

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ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000126.4(ETFA):c.817-3173C>G rs2456057 0.64613
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_004453.4(ETFDH):c.606+1791G>A rs12644851 0.37958
NM_004453.4(ETFDH):c.973-104A>C rs7679753 0.34747
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000126.4(ETFA):c.734-20C>A rs2460160 0.00787
NM_001985.3(ETFB):c.438+20C>T rs114985874 0.00662
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661 0.00334
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_000126.4(ETFA):c.186+16G>T rs146932936 0.00249
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
NM_000126.4(ETFA):c.451+14G>A rs557684539 0.00005
NM_001985.3(ETFB):c.217-4G>T rs149557388 0.00003
NM_001985.3(ETFB):c.618C>T (p.Ile206=) rs533794107 0.00003
NM_000126.4(ETFA):c.40-19del
NM_000126.4(ETFA):c.40-19dup rs755841159
NM_000126.4(ETFA):c.40-20_40-19dup
NM_000126.4(ETFA):c.665-17del rs144403864
NM_000126.4(ETFA):c.665-17dup rs144403864
NM_000126.4(ETFA):c.734-9del
NM_000126.4(ETFA):c.817-8del
NM_000126.4(ETFA):c.964-20C>G rs570818940
NM_001985.3(ETFB):c.216+18del
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_004453.4(ETFDH):c.405+19del
NM_004453.4(ETFDH):c.405+19dup
NM_004453.4(ETFDH):c.607-12del
NM_004453.4(ETFDH):c.607-3del
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.684+12del
NM_004453.4(ETFDH):c.685-4del
NM_004453.4(ETFDH):c.832-3dup rs376153836
NM_004453.4(ETFDH):c.832-4_832-3del

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