ClinVar Miner

List of variants in gene CDH23 reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp) rs760927863 0.00001

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