ClinVar Miner

List of variants reported as benign for acyl-CoA dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.216+10T>C rs2275378 0.30596
NM_000016.6(ACADM):c.469-22C>A rs12127402 0.25202
NM_000016.6(ACADM):c.31-32C>G rs7524467 0.23867
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.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_000016.6(ACADM):c.-34T>C rs59932454 0.05213
NM_000016.6(ACADM):c.119-20T>C rs74090724 0.05208
NM_000016.6(ACADM):c.351A>C (p.Thr117=) rs74090726 0.05204
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556 0.03280
NM_000016.6(ACADM):c.31-73T>C rs142795930 0.02211
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_000017.4(ACADS):c.625-83G>A rs150191962 0.01034
NM_000126.4(ETFA):c.734-20C>A rs2460160 0.00787
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661 0.00334
NM_000016.6(ACADM):c.31-37C>T rs201590881 0.00224
NM_000016.6(ACADM):c.469-9A>G rs181322317 0.00223
NM_000016.6(ACADM):c.468+71T>C rs571856182 0.00198
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000016.6(ACADM):c.468+62C>T rs875989870 0.00019
NM_000016.6(ACADM):c.118+18T>A rs755405418 0.00003
NM_000016.6(ACADM):c.118+114A>G rs875989868
NM_000016.6(ACADM):c.118+60del rs796117827
NM_000016.6(ACADM):c.118+64del rs875989853

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