ClinVar Miner

List of variants in gene CDH23 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 61
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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.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
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.9015G>A (p.Ala3005=) rs376497158 0.00379
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.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.4287C>T (p.Pro1429=) rs377493327 0.00101
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_022124.6(CDH23):c.4947G>A (p.Thr1649=) rs373046094 0.00047
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_022124.6(CDH23):c.1213G>A (p.Val405Ile) rs370549448 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.1449+100A>C rs758005146 0.00007
NM_022124.6(CDH23):c.6168C>T (p.Leu2056=) rs371570295 0.00006
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474 0.00006
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=) rs549569431 0.00005
NM_022124.6(CDH23):c.4854G>A (p.Thr1618=) rs376538879 0.00005
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=) rs370965108 0.00005
NM_022124.6(CDH23):c.5610C>T (p.Val1870=) rs568993739 0.00003
NM_022124.6(CDH23):c.8286G>A (p.Ala2762=) rs727504445 0.00003
NM_022124.6(CDH23):c.4893G>A (p.Ala1631=) rs576781235 0.00002
NM_022124.6(CDH23):c.9210C>T (p.Ile3070=) rs1293912018 0.00002
NM_022124.6(CDH23):c.1416C>T (p.Asn472=) rs745573280 0.00001
NM_022124.6(CDH23):c.1695C>G (p.Ala565=) rs372380590 0.00001
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185 0.00001
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099 0.00001
NM_022124.6(CDH23):c.5091G>A (p.Glu1697=) rs376721494 0.00001
NM_022124.6(CDH23):c.552C>T (p.Arg184=) rs768251221 0.00001
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) rs369805384 0.00001
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557 0.00001
NM_022124.6(CDH23):c.1515G>A (p.Arg505=)
NM_022124.6(CDH23):c.3106+14C>T
NM_022124.6(CDH23):c.4413C>T (p.Thr1471=) rs199700008
NM_022124.6(CDH23):c.5151C>T (p.Cys1717=) rs1840864618
NM_022124.6(CDH23):c.5364T>A (p.Pro1788=) rs2132930064
NM_022124.6(CDH23):c.6712+903A>T
NM_022124.6(CDH23):c.6927C>A (p.Ala2309=) rs765133274
NM_022124.6(CDH23):c.7359C>T (p.Thr2453=) rs1328633540
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.9939G>A (p.Glu3313=)

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