ClinVar Miner

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

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Total variants: 10
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HGVS dbSNP
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.2289+1G>A rs769433759
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.7362+5G>A rs727502931
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.945+1G>A

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