ClinVar Miner

List of variants in gene CDH23 reported as benign for Retinitis pigmentosa-deafness syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078

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