ClinVar Miner

List of variants studied for perceptual disorders by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala) rs2132965891

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