ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.2587+35C>T rs186492861 0.00026
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_022124.6(CDH23):c.6512G>A (p.Arg2171His) rs531513127 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.5187+1G>A rs1280991447 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter) rs750027965 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.2177-2A>G rs1377982927 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn) rs771766431 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn) rs750452808 0.00001
NM_022124.6(CDH23):c.4504C>T (p.Arg1502Ter) rs769742202 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys) rs773004408 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn) rs772953914 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.7814A>G (p.Asn2605Ser) rs780917129 0.00001
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp) rs936479651 0.00001
NM_022124.6(CDH23):c.8146del (p.Asp2716fs) rs1564804195 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NC_000010.10:g.(73454017_73455174)_73468962del
NC_000010.10:g.(?_73206055)_(73206172_?)del
NC_000010.10:g.(?_73269819)_(73270989_?)dup
NC_000010.10:g.(?_73269829)_(73405747_?)dup
NC_000010.10:g.(?_73337661)_(73337759_?)dup
NC_000010.10:g.(?_73537417)_(73551112_?)dup
NC_000010.11:g.(?_71645831)_(71646617_?)del
NC_000010.11:g.71645832del rs1589292855
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser)
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
NM_022124.6(CDH23):c.1134+1G>A
NM_022124.6(CDH23):c.1135-2A>C
NM_022124.6(CDH23):c.1140+1G>C rs771002870
NM_022124.6(CDH23):c.1140+1G>T
NM_022124.6(CDH23):c.1141-1G>A rs2132594619
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1246_1266del (p.Ala416_Glu422del) rs397517305
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) rs1862873659
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
NM_022124.6(CDH23):c.1449+5G>A
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.1514+1G>A rs2132664539
NM_022124.6(CDH23):c.1570G>A (p.Glu524Lys)
NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser) rs1060499792
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1752+2T>C rs1864433756
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.1859-2A>G
NM_022124.6(CDH23):c.1868_1891dup (p.Glu630_Gln631insLeuSerArgProLeuAspTyrGlu)
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
NM_022124.6(CDH23):c.1950del (p.Leu651fs)
NM_022124.6(CDH23):c.1986+3A>T rs2132682822
NM_022124.6(CDH23):c.1987-1G>T
NM_022124.6(CDH23):c.2059+1G>T
NM_022124.6(CDH23):c.2060-1G>A rs1865145294
NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer) rs1865149889
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
NM_022124.6(CDH23):c.2176+1G>A
NM_022124.6(CDH23):c.2289+1G>C
NM_022124.6(CDH23):c.2290-1G>A
NM_022124.6(CDH23):c.2334G>A (p.Trp778Ter) rs868188730
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter) rs1589344004
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
NM_022124.6(CDH23):c.2397+1G>A
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
NM_022124.6(CDH23):c.2587+1G>A
NM_022124.6(CDH23):c.2587+1G>C
NM_022124.6(CDH23):c.2588-1G>A
NM_022124.6(CDH23):c.2588-1G>T rs2132732963
NM_022124.6(CDH23):c.2701G>A (p.Glu901Lys) rs876657636
NM_022124.6(CDH23):c.2733+1G>A rs2132733452
NM_022124.6(CDH23):c.2753A>T (p.Asp918Val)
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly) rs2132740263
NM_022124.6(CDH23):c.288+2T>C
NM_022124.6(CDH23):c.289-1G>A
NM_022124.6(CDH23):c.2922del (p.Lys975fs) rs1338446830
NM_022124.6(CDH23):c.2953+1G>A
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.2956del (p.Leu986fs) rs2132745856
NM_022124.6(CDH23):c.2984del (p.Phe995fs) rs1554858698
NM_022124.6(CDH23):c.3106+2T>G
NM_022124.6(CDH23):c.3176A>T (p.Asp1059Val) rs1865887896
NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys) rs2132751512
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3220+1G>T rs1487026359
NM_022124.6(CDH23):c.336+1G>T rs764824311
NM_022124.6(CDH23):c.336+1del
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.4210-1G>A rs1166948274
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.429+2T>C rs763595608
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
NM_022124.6(CDH23):c.4489-1G>A rs2132846050
NM_022124.6(CDH23):c.4565A>T (p.Asp1522Val)
NM_022124.6(CDH23):c.4617+1G>A rs2132846322
NM_022124.6(CDH23):c.4617+2T>C rs1839717773
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.478del (p.Asp160fs) rs2132358279
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.494G>T (p.Gly165Val) rs776354402
NM_022124.6(CDH23):c.5067+1G>A
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5149T>C (p.Cys1717Arg) rs552998089
NM_022124.6(CDH23):c.5187+2T>C rs986154966
NM_022124.6(CDH23):c.5188-1G>A
NM_022124.6(CDH23):c.5188-2A>G rs2132929231
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5368+2T>C
NM_022124.6(CDH23):c.5369-1G>A rs1564791773
NM_022124.6(CDH23):c.5369-2A>G rs2132938020
NM_022124.6(CDH23):c.5502+1G>A
NM_022124.6(CDH23):c.5502+2T>G
NM_022124.6(CDH23):c.5503-1G>T
NM_022124.6(CDH23):c.5503-2A>G rs2132939079
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
NM_022124.6(CDH23):c.562dup (p.Thr188fs) rs1857435780
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5820+2T>C
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.5821-1G>A
NM_022124.6(CDH23):c.5908G>A (p.Glu1970Lys) rs2132945762
NM_022124.6(CDH23):c.5924-1G>A rs1841212177
NM_022124.6(CDH23):c.5924-2A>C rs2132947899
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) rs1564795354
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.624+1G>A
NM_022124.6(CDH23):c.624+2T>C
NM_022124.6(CDH23):c.6253+1G>A rs1554874373
NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs) rs2132953243
NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs) rs2132953252
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe) rs765026901
NM_022124.6(CDH23):c.6412del (p.Glu2138fs) rs111033473
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs) rs1841315122
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp) rs2132954257
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
NM_022124.6(CDH23):c.67+1G>A
NM_022124.6(CDH23):c.6712+2T>C
NM_022124.6(CDH23):c.6713-1G>A
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs) rs1841460358
NM_022124.6(CDH23):c.683A>T (p.Asp228Val) rs1060499788
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)
NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala) rs2132965891
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
NM_022124.6(CDH23):c.7054+1G>A rs1057524265
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022124.6(CDH23):c.7225-2A>C
NM_022124.6(CDH23):c.7225-2A>G rs2132968572
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
NM_022124.6(CDH23):c.7362+1G>A rs2132968839
NM_022124.6(CDH23):c.7482+2T>C rs2132971828
NM_022124.6(CDH23):c.7483-1G>A
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_022124.6(CDH23):c.753+1G>A rs1857755312
NM_022124.6(CDH23):c.754-2A>G rs2132400338
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr) rs373294595
NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
NM_022124.6(CDH23):c.7872+2T>A
NM_022124.6(CDH23):c.7872+2T>C rs766906353
NM_022124.6(CDH23):c.7873-1G>A
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) rs1221464948
NM_022124.6(CDH23):c.790G>T (p.Asp264Tyr)
NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr) rs2132985083
NM_022124.6(CDH23):c.8179-1G>A rs2132987509
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro) rs1060499790
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.8257G>T (p.Ala2753Ser) rs397517356
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.8309-1G>A
NM_022124.6(CDH23):c.832+1G>A
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) rs1861130719
NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) rs1564805114
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
NM_022124.6(CDH23):c.849del (p.Phe284fs) rs1861132418
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
NM_022124.6(CDH23):c.8560+1G>A
NM_022124.6(CDH23):c.8561-1G>A rs2132990173
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) rs767343063
NM_022124.6(CDH23):c.8722+1G>A
NM_022124.6(CDH23):c.8722+2T>G rs2132990828
NM_022124.6(CDH23):c.8723-2A>G
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
NM_022124.6(CDH23):c.8979+1G>A rs2132996862
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_022124.6(CDH23):c.9078-2A>G
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022124.6(CDH23):c.9199-1G>A rs2133002032
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) rs1564807887
NM_022124.6(CDH23):c.9278+2T>A
NM_022124.6(CDH23):c.9278+2T>G rs2133002381
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9320-1G>A rs1589438942
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.945+1G>C
NM_022124.6(CDH23):c.946-1G>A
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9511-1G>A rs1293118415
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9738+1G>T

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