ClinVar Miner

List of variants in gene CDH23 reported by Eurofins NTD LLC (GA)

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Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
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.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
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.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
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.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488 0.00151
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) rs375358318 0.00070
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00063
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
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.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00038
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00028
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174 0.00024
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00017
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
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.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00011
NM_022124.6(CDH23):c.1514+6A>G rs367949981 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394 0.00009
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu) rs376453794 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys) rs369740230 0.00008
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) rs772284876 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00007
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.870C>T (p.Ser290=) rs375292899 0.00006
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn) rs200459094 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) rs191154178 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022124.6(CDH23):c.619G>A (p.Ala207Thr) rs777365157 0.00002
NM_022124.6(CDH23):c.146-2A>G rs794727649 0.00001
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.2494A>C (p.Lys832Gln) rs794727385 0.00001
NM_022124.6(CDH23):c.2714C>T (p.Ala905Val) rs201871422 0.00001
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp) rs768031780 0.00001
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099 0.00001
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp) rs145951744 0.00001
NM_022124.6(CDH23):c.5971G>C (p.Asp1991His) rs763911648 0.00001
NM_022124.6(CDH23):c.6250C>T (p.Pro2084Ser) rs756933556 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711 0.00001
NM_022124.6(CDH23):c.8065-8G>A rs376332131 0.00001
NM_022124.6(CDH23):c.8867G>A (p.Arg2956His) rs727503842 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) rs540567272 0.00001
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.1608G>A (p.Arg536=) rs1554854105
NM_022124.6(CDH23):c.2431G>A (p.Gly811Ser) rs1554857847
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) rs756454038
NM_022124.6(CDH23):c.2891G>C (p.Arg964Pro) rs376560330
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu) rs553541801
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5788G>T (p.Asp1930Tyr) rs377599924
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln) rs753985914
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) rs749235545
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn) rs769241730
NM_022124.6(CDH23):c.7180G>C (p.Asp2394His) rs1219254546
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8813C>T (p.Ala2938Val) rs770584130
NM_022124.6(CDH23):c.9437C>T (p.Ala3146Val) rs779480321
NM_022124.6(CDH23):c.9500C>A (p.Thr3167Lys) rs886044299
NM_022124.6(CDH23):c.9947C>T (p.Thr3316Ile) rs886043695

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