ClinVar Miner

List of variants in gene ACADM reported as benign for medium chain acyl-CoA dehydrogenase deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_000016.6(ACADM):c.*878T>C rs1146587 0.65645
NM_000016.6(ACADM):c.286+178G>A rs3818855 0.30613
NM_000016.6(ACADM):c.387+32C>G rs2153126 0.30601
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.945+99T>C rs11161521 0.23825
NM_000016.6(ACADM):c.1161A>G (p.Val387=) rs1061337 0.23824
NM_000016.6(ACADM):c.*672T>C rs8763 0.14503
NM_000016.6(ACADM):c.-362T>C rs1251076 0.12826
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.*773G>A rs61612438 0.05111
NM_000016.6(ACADM):c.-401G>A rs114005461 0.04873
NM_000016.6(ACADM):c.-142C>G rs61124994 0.04520
NM_000016.6(ACADM):c.*39G>A rs17848065 0.04004
NM_000016.6(ACADM):c.31-73T>C rs142795930 0.02211
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_000016.6(ACADM):c.*77C>T rs143911981 0.00652
NM_000016.6(ACADM):c.387+40G>A rs187510227 0.00241
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.1194+11A>G rs373059851 0.00084
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.-257G>A rs17848068
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
NM_000016.6(ACADM):c.1194+23del
NM_000016.6(ACADM):c.1194+23dup
NM_000016.6(ACADM):c.1195-8dup

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