ClinVar Miner

List of variants in gene combination LOC126806272, SNRNP200 reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.5104T>C (p.Cys1702Arg) rs1412783475

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