ClinVar Miner

List of variants studied for medium chain acyl-CoA dehydrogenase deficiency by Myriad Genetics, Inc.

Included ClinVar conditions (1):
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.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280 0.00073
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) rs747268471 0.00003
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) rs875989876 0.00001
NM_000016.6(ACADM):c.193dup (p.Ala65fs)
NM_000016.6(ACADM):c.212del (p.Gly71fs)
NM_000016.6(ACADM):c.321_322del (p.Leu107fs)
NM_000016.6(ACADM):c.348T>A (p.Cys116Ter)
NM_000016.6(ACADM):c.467del (p.Cys156fs)
NM_000016.6(ACADM):c.556_557del (p.Asn186fs)
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter)
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter)

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