ClinVar Miner

List of variants studied for inborn disorder of amino acid metabolism by Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital

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_005334.3(HCFC1):c.3356C>T (p.Thr1119Ile) rs782727601 0.00010
NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg) rs2051753978

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