ClinVar Miner

List of variants in gene CDH23 reported by Mendelics

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Total variants: 13
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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
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile) rs558094423 0.00001
NM_022124.6(CDH23):c.2761del (p.Gly920_Leu921insTer) rs2132739696
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met) rs780523589
NM_022124.6(CDH23):c.9461A>T (p.Glu3154Val) rs998064994

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