ClinVar Miner

List of variants reported as likely benign for acyl-CoA dehydrogenase deficiency by Illumina Laboratory Services, Illumina

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_004453.3(ETFDH):c.-239G>A rs113981461 0.01253
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_000126.4(ETFA):c.-71T>C rs116149551 0.00516
NM_000017.4(ACADS):c.*200C>T rs137990231 0.00378
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_000017.4(ACADS):c.796-14G>C rs201420791 0.00256
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
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.1375C>T (p.His459Tyr) rs200111698 0.00050
NM_000016.5(ACADM):c.-257G>A rs17848068

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