ClinVar Miner

List of variants in gene combination C10orf105, CDH23 reported as pathogenic for Usher syndrome type 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.4105-2A>T	rs1416386069	0.00001
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	rs866435331

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