ClinVar Miner

List of variants in gene CDH23 reported by OMIM

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Total variants: 14
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HGVS dbSNP
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
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.5663T>C (p.Phe1888Ser) rs121908352
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.6(CDH23):c.7362+5G>A rs727502931
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344

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