ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics

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_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735 0.00017
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00001

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