ClinVar Miner

List of variants in gene CDH23 reported by Clinical Genetics, Academic Medical Center

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Gene type:
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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_022124.6(CDH23):c.387G>A (p.Ala129=) rs201919232 0.00089
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_022124.6(CDH23):c.9381-144C>A rs187068482 0.00025
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.1227G>A (p.Ala409=) rs371212430 0.00011
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.415G>A (p.Val139Ile) rs771868822 0.00008
NM_022124.6(CDH23):c.612G>A (p.Thr204=) rs200200488 0.00007
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.1536G>A (p.Thr512=) rs56128491 0.00003
NM_022124.6(CDH23):c.5117G>A (p.Arg1706His) rs376614796 0.00002
NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser) rs767750411 0.00001
NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp) rs760927863 0.00001
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp) rs145951744 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) rs369805384 0.00001
NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln) rs536438868
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.7660+1G>T rs1057520662

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