ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance for Retinitis pigmentosa-deafness syndrome

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Total variants: 135
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HGVS dbSNP
NM_022124.6(CDH23):c.*117dup rs886047145
NM_022124.6(CDH23):c.*1C>G rs768199443
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.*83G>A rs886047143
NM_022124.6(CDH23):c.*85G>A rs886047144
NM_022124.6(CDH23):c.-15C>A rs760922529
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-185G>C rs545081281
NM_022124.6(CDH23):c.-197_-191GAGCGGC[3] rs527578984
NM_022124.6(CDH23):c.-197_-191GAGCGGC[5] rs527578984
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-353C>G rs886047121
NM_022124.6(CDH23):c.-38G>C rs886047128
NM_022124.6(CDH23):c.-45_-41AGGCG[4] rs71012280
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013
NM_022124.6(CDH23):c.1621G>A (p.Glu541Lys) rs562019725
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499
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.1858+6T>C rs745522676
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2176+12C>T rs371967419
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2290-13del rs397517316
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276
NM_022124.6(CDH23):c.2953+10C>T rs781572688
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3109G>A (p.Gly1037Ser) rs886047133
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622
NM_022124.6(CDH23):c.446C>T (p.Thr149Met) rs370947344
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.5067+15G>A rs367928867
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418
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.5711C>T (p.Thr1904Met) rs372981760
NM_022124.6(CDH23):c.5727T>C (p.Thr1909=) rs756919394
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384
NM_022124.6(CDH23):c.7362+14G>A rs78158757
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.7661-9C>T rs577559462
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.6(CDH23):c.8309-3C>T rs371910002
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726
NM_022124.6(CDH23):c.8979+13C>T rs886047142
NM_022124.6(CDH23):c.8980-12C>T rs111583276
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017
NM_022124.6(CDH23):c.9198+13C>T rs375384238
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457

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