ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_001101.5(ACTB):c.587G>T (p.Arg196Leu) rs281875334
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998

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