ClinVar Miner

List of variants studied for medium chain acyl-CoA dehydrogenase deficiency by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.799G>A (p.Gly267Arg) rs121434274 0.00013

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