ClinVar Miner

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

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_000126.4(ETFA):c.817-3173C>G rs2456057 0.64613
NM_000017.4(ACADS):c.990C>T (p.Arg330=) rs3915 0.59445
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_000017.4(ACADS):c.321T>C (p.Arg107=) rs3914 0.51709
NM_004453.4(ETFDH):c.606+1791G>A rs12644851 0.37958
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000016.6(ACADM):c.119-20T>C rs74090724 0.05208
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000017.4(ACADS):c.360C>T (p.Asn120=) rs76543640 0.01346
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
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_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000126.4(ETFA):c.186+16G>T rs146932936 0.00249
NM_000017.4(ACADS):c.423G>A (p.Thr141=) rs2239686 0.00237
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000017.4(ACADS):c.1087-17C>A rs201218974 0.00219
NM_000017.4(ACADS):c.522C>T (p.Gly174=) rs143925225 0.00169
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_000016.6(ACADM):c.1194+11A>G rs373059851 0.00084
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
NM_000017.4(ACADS):c.465C>T (p.Ser155=) rs141492002 0.00016
NM_000017.4(ACADS):c.1108A>G (p.Met370Val) rs566325901 0.00009
NM_000126.4(ETFA):c.451+14G>A rs557684539 0.00005
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00004
NM_000017.4(ACADS):c.663G>T (p.Gly221=) rs751023929 0.00004
NM_001985.3(ETFB):c.217-4G>T rs149557388 0.00003
NM_001985.3(ETFB):c.618C>T (p.Ile206=) rs533794107 0.00003
NM_000016.6(ACADM):c.1194+23del
NM_000016.6(ACADM):c.1194+23dup
NM_000016.6(ACADM):c.1195-8dup
NM_000017.4(ACADS):c.516C>T (p.Ala172=) rs531683812
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_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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