ClinVar Miner

List of variants in gene CDH23 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 140
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HGVS dbSNP
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241
NM_022124.6(CDH23):c.1450-4G>A rs374549358
NM_022124.6(CDH23):c.146-2A>G rs794727649
NM_022124.6(CDH23):c.1504G>A (p.Asp502Asn) rs200459094
NM_022124.6(CDH23):c.1514+6A>G rs367949981
NM_022124.6(CDH23):c.1583G>A (p.Arg528His)
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1608G>A (p.Arg536=) rs1554854105
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.1752+6G>A rs369013539
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.1981G>A (p.Val661Met) rs369157174
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2431G>A (p.Gly811Ser) rs1554857847
NM_022124.6(CDH23):c.2494A>C (p.Lys832Gln) rs794727385
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) rs756454038
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997
NM_022124.6(CDH23):c.2714C>T (p.Ala905Val) rs201871422
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.6(CDH23):c.2890C>T (p.Arg964Trp) rs768031780
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.2891G>C (p.Arg964Pro) rs376560330
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.2990C>T (p.Pro997Leu) rs553541801
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.310G>A (p.Glu104Lys) rs772284876
NM_022124.6(CDH23):c.3172C>G (p.Leu1058Val) rs748462315
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4488+7C>T rs374215303
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.6(CDH23):c.5146C>A (p.Gln1716Lys)
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5470C>T (p.Arg1824Cys) rs755817193
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014
NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp) rs145951744
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) rs375358318
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5788G>T (p.Asp1930Tyr) rs377599924
NM_022124.6(CDH23):c.586G>C (p.Glu196Gln)
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233
NM_022124.6(CDH23):c.5971G>C (p.Asp1991His) rs763911648
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6050-10C>T rs560760228
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) rs749235545
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.619G>A (p.Ala207Thr) rs777365157
NM_022124.6(CDH23):c.6250C>T (p.Pro2084Ser)
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.6(CDH23):c.6440C>A (p.Thr2147Asn) rs769241730
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493
NM_022124.6(CDH23):c.6530C>T (p.Pro2177Leu) rs376453794
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7055-16A>G rs4747193
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) rs191154178
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688
NM_022124.6(CDH23):c.7180G>C (p.Asp2394His) rs1219254546
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174
NM_022124.6(CDH23):c.8065-8G>A rs376332131
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283
NM_022124.6(CDH23):c.870C>T (p.Ser290=) rs375292899
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086
NM_022124.6(CDH23):c.8813C>T (p.Ala2938Val)
NM_022124.6(CDH23):c.8867G>A (p.Arg2956His) rs727503842
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
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.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) rs540567272
NM_022124.6(CDH23):c.9947C>T (p.Thr3316Ile) rs886043695
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715

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