ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Biochemical Genetics Department, 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_000159.4(GCDH):c.192G>T (p.Glu64Asp) rs1555749239
NM_000159.4(GCDH):c.803G>T (p.Gly268Val) rs765723076

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