ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.-197GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.9198+13C>T rs375384238

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