ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Medical Genetics Laboratory, Tarbiat Modares University

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg) rs780393773 0.00001

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