ClinVar Miner

List of variants in gene CDH23 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.336+1G>A rs764824311 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
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.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu) rs778251205 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.6337C>T (p.Gln2113Ter) rs771210121 0.00002
NM_022124.6(CDH23):c.2289+1G>A rs769433759 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.303_306dup (p.Val103fs) rs1470508986 0.00001
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=) rs397517342 0.00001
NM_022124.6(CDH23):c.5826T>G (p.Tyr1942Ter) rs1346156899 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6050-1G>C rs762805265 0.00001
NM_022124.6(CDH23):c.6319C>T (p.Arg2107Ter) rs1306728898 0.00001
NM_022124.6(CDH23):c.65G>A (p.Trp22Ter) rs1431027601 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) rs397517353 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.8383C>T (p.Arg2795Ter) rs768834772 0.00001
NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9393del (p.Trp3132fs) rs1841971727 0.00001
NC_000010.10:g.(?_73269819)_(73270989_?)del
NC_000010.10:g.(?_73269829)_(73337759_?)del
NC_000010.10:g.(?_73375251)_(73375383_?)del
NC_000010.10:g.(?_73437203)_(73439259_?)del
NC_000010.10:g.(?_73439124)_(73447496_?)del
NC_000010.10:g.(?_73442182)_(73442349_?)del
NC_000010.10:g.(?_73447394)_(73447486_?)del
NC_000010.10:g.(?_73464658)_(73464897_?)del
NC_000010.10:g.(?_73466676)_(73467843_?)del
NC_000010.10:g.(?_73537936)_(73539214_?)del
NC_000010.10:g.(?_73544034)_(73556987_?)del
NC_000010.11:g.(?_71439832)_(71439898_?)del
NC_000010.11:g.(?_71510072)_(71511222_?)del
NC_000010.11:g.(?_71577904)_(71578002_?)del
NC_000010.11:g.(?_71682445)_(71682572_?)del
NC_000010.11:g.71777680del
NC_000010.11:g.71811714_71811720del rs2133002929
NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1112del (p.Ile371fs) rs1861245902
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1162del (p.Val388fs) rs2132594712
NM_022124.6(CDH23):c.1179del (p.Asn393fs)
NM_022124.6(CDH23):c.136_137del (p.Thr46fs) rs2132023620
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs) rs1862873659
NM_022124.6(CDH23):c.1420del (p.Thr474fs)
NM_022124.6(CDH23):c.1424_1425dup (p.Gly476fs)
NM_022124.6(CDH23):c.1428dup (p.Thr477fs) rs750803248
NM_022124.6(CDH23):c.1446_1447insTT (p.Leu483fs) rs2132597551
NM_022124.6(CDH23):c.1521_1542del (p.Leu508fs) rs2132669396
NM_022124.6(CDH23):c.152_153del (p.Ser51fs) rs2132195736
NM_022124.6(CDH23):c.1616del (p.Gly539fs)
NM_022124.6(CDH23):c.1700_1701del (p.Val567fs) rs1184309321
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1827C>G (p.Tyr609Ter)
NM_022124.6(CDH23):c.185del (p.Asn62fs) rs2132195841
NM_022124.6(CDH23):c.1880del (p.Leu627fs)
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1916_1919delinsATCCAT (p.Leu639fs) rs1864695566
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.193dup (p.Leu65fs)
NM_022124.6(CDH23):c.1983_1984insATGGG (p.Phe662fs)
NM_022124.6(CDH23):c.201del (p.Phe67fs)
NM_022124.6(CDH23):c.2059G>T (p.Gly687Ter) rs1864965277
NM_022124.6(CDH23):c.214G>T (p.Glu72Ter) rs1228413559
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2211_2212del (p.Glu737fs)
NM_022124.6(CDH23):c.2226C>A (p.Tyr742Ter)
NM_022124.6(CDH23):c.2255del (p.Gly752fs) rs34432586
NM_022124.6(CDH23):c.2269C>T (p.Gln757Ter)
NM_022124.6(CDH23):c.227_233dup (p.Phe78fs) rs2132196113
NM_022124.6(CDH23):c.2289+1G>C
NM_022124.6(CDH23):c.2328del (p.Thr777fs)
NM_022124.6(CDH23):c.2329_2330del (p.Thr777fs) rs775093336
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.2359_2382del (p.Leu787_Asp794del) rs886038668
NM_022124.6(CDH23):c.2385_2386del (p.Asp796fs)
NM_022124.6(CDH23):c.2414del (p.Pro805fs)
NM_022124.6(CDH23):c.2425G>T (p.Glu809Ter) rs1039517349
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
NM_022124.6(CDH23):c.2600del (p.Pro867fs)
NM_022124.6(CDH23):c.2664del (p.Thr889fs) rs763820312
NM_022124.6(CDH23):c.2665_2668dup (p.Phe890fs) rs1865634253
NM_022124.6(CDH23):c.2719dup (p.Val907fs) rs2132733369
NM_022124.6(CDH23):c.271C>T (p.Gln91Ter) rs1853882557
NM_022124.6(CDH23):c.2733del (p.Val912fs)
NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn) rs1318444606
NM_022124.6(CDH23):c.2752G>A (p.Asp918Asn)
NM_022124.6(CDH23):c.2755G>T (p.Glu919Ter)
NM_022124.6(CDH23):c.2768dup (p.Leu924fs) rs2132739739
NM_022124.6(CDH23):c.2839del (p.Val947fs) rs1865727404
NM_022124.6(CDH23):c.2853_2865del (p.Glu952fs) rs2132740161
NM_022124.6(CDH23):c.288+1G>C rs1057520661
NM_022124.6(CDH23):c.288+2T>C
NM_022124.6(CDH23):c.2911_2914del (p.Gly971fs)
NM_022124.6(CDH23):c.2918_2928del (p.Pro973fs) rs1865731567
NM_022124.6(CDH23):c.2922del (p.Lys975fs) rs1338446830
NM_022124.6(CDH23):c.2984del (p.Phe995fs) rs1554858698
NM_022124.6(CDH23):c.3090del (p.Ser1031fs)
NM_022124.6(CDH23):c.3103dup (p.Thr1035fs)
NM_022124.6(CDH23):c.332del (p.Gln111fs)
NM_022124.6(CDH23):c.370del (p.Asp124fs)
NM_022124.6(CDH23):c.4249del (p.Arg1417fs)
NM_022124.6(CDH23):c.4274del (p.Ala1425fs) rs2132841425
NM_022124.6(CDH23):c.4299del (p.Val1434fs) rs2132841517
NM_022124.6(CDH23):c.4389del (p.Ile1463fs)
NM_022124.6(CDH23):c.4396_4397delinsA (p.Ala1466fs) rs1839681191
NM_022124.6(CDH23):c.4432G>T (p.Glu1478Ter)
NM_022124.6(CDH23):c.4453dup (p.Leu1485fs)
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4518dup (p.Arg1507fs)
NM_022124.6(CDH23):c.4615G>T (p.Glu1539Ter)
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.484G>A (p.Gly162Arg)
NM_022124.6(CDH23):c.4855del (p.His1619fs) rs2132925663
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.4903C>T (p.Gln1635Ter) rs2132925769
NM_022124.6(CDH23):c.4918G>T (p.Glu1640Ter)
NM_022124.6(CDH23):c.4942_4943del (p.Asp1648fs) rs1564788732
NM_022124.6(CDH23):c.494del (p.Gly165fs)
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5166_5175del (p.Arg1723fs) rs2132927381
NM_022124.6(CDH23):c.5191dup (p.Leu1731fs) rs1840892582
NM_022124.6(CDH23):c.5198dup (p.Asn1733fs)
NM_022124.6(CDH23):c.5201del (p.Val1734fs) rs2132929303
NM_022124.6(CDH23):c.522dup (p.Ser175fs)
NM_022124.6(CDH23):c.5245G>T (p.Glu1749Ter)
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5306_5307del (p.His1769fs) rs2132929805
NM_022124.6(CDH23):c.5368+1G>A rs2132930073
NM_022124.6(CDH23):c.5402del (p.Leu1801fs)
NM_022124.6(CDH23):c.5432_5451dup (p.Asn1818fs) rs2132938148
NM_022124.6(CDH23):c.5518del (p.Arg1840fs)
NM_022124.6(CDH23):c.556del (p.Ile186fs) rs2132358732
NM_022124.6(CDH23):c.562dup (p.Thr188fs) rs1857435780
NM_022124.6(CDH23):c.5663T>C (p.Phe1888Ser) rs121908352
NM_022124.6(CDH23):c.5736del (p.Leu1914fs)
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.5871_5872dup (p.Leu1958fs) rs2132945702
NM_022124.6(CDH23):c.5891dup (p.Tyr1964Ter)
NM_022124.6(CDH23):c.5916_5917del (p.Pro1973fs) rs2132945765
NM_022124.6(CDH23):c.5916del (p.Ala1974fs)
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.603C>G (p.Tyr201Ter)
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6049+1G>T rs111033247
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6155del (p.Thr2052fs) rs2132949774
NM_022124.6(CDH23):c.6160del (p.His2054fs) rs2132949791
NM_022124.6(CDH23):c.6167del (p.Leu2056fs)
NM_022124.6(CDH23):c.6253+2T>C
NM_022124.6(CDH23):c.6254-3_6254delinsT rs1841308758
NM_022124.6(CDH23):c.628C>T (p.Gln210Ter) rs1857745217
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6345del (p.Phe2116fs) rs1841311708
NM_022124.6(CDH23):c.6376del (p.Arg2126fs) rs2132953500
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6402_6405del (p.Glu2135fs) rs55947063
NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs) rs1841315122
NM_022124.6(CDH23):c.6450dup (p.Thr2151fs)
NM_022124.6(CDH23):c.6453del (p.Val2152fs)
NM_022124.6(CDH23):c.6463_6464dup (p.Gly2156fs)
NM_022124.6(CDH23):c.6474dup (p.Ile2159fs) rs2132953942
NM_022124.6(CDH23):c.6526_6557dup (p.Ser2186_Ala2187insThrProSerArgGlnTer)
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6622_6626del (p.Glu2208fs)
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
NM_022124.6(CDH23):c.6682G>T (p.Glu2228Ter)
NM_022124.6(CDH23):c.6775_6776del (p.Val2260fs)
NM_022124.6(CDH23):c.6794del (p.Ser2265fs)
NM_022124.6(CDH23):c.6809del (p.Arg2270fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6840del (p.Val2281fs)
NM_022124.6(CDH23):c.6867del (p.Asn2289fs)
NM_022124.6(CDH23):c.6925del (p.Ala2309fs)
NM_022124.6(CDH23):c.6933del (p.Thr2313fs) rs2132965694
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.6961_6968del (p.Ala2320_Val2321insTer)
NM_022124.6(CDH23):c.6974dup (p.Leu2327fs)
NM_022124.6(CDH23):c.7003del (p.Leu2335fs) rs1379171478
NM_022124.6(CDH23):c.7022dup (p.Gly2342fs)
NM_022124.6(CDH23):c.7082del (p.Asp2361fs)
NM_022124.6(CDH23):c.7100G>A (p.Trp2367Ter) rs2132967710
NM_022124.6(CDH23):c.7115dup (p.Arg2373fs) rs2132967767
NM_022124.6(CDH23):c.7121_7145del (p.Ala2374fs) rs2132967790
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7221C>A (p.Tyr2407Ter) rs779038178
NM_022124.6(CDH23):c.738C>G (p.Tyr246Ter) rs745668474
NM_022124.6(CDH23):c.7480C>T (p.Gln2494Ter)
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
NM_022124.6(CDH23):c.7559dup (p.Asn2521fs)
NM_022124.6(CDH23):c.7580C>A (p.Ser2527Ter)
NM_022124.6(CDH23):c.7757del (p.Gly2586fs)
NM_022124.6(CDH23):c.7769dup (p.Leu2591fs) rs2132978502
NM_022124.6(CDH23):c.7828_7831del (p.Val2610fs) rs2132978731
NM_022124.6(CDH23):c.7832_7833del (p.Phe2611fs)
NM_022124.6(CDH23):c.7847dup (p.Asn2616fs) rs1841616050
NM_022124.6(CDH23):c.7872+1G>C
NM_022124.6(CDH23):c.7872G>A (p.Glu2624=) rs1292050472
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs) rs1221464948
NM_022124.6(CDH23):c.8069del (p.Ile2690fs)
NM_022124.6(CDH23):c.8106C>A (p.Tyr2702Ter)
NM_022124.6(CDH23):c.8106C>G (p.Tyr2702Ter) rs558564568
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)
NM_022124.6(CDH23):c.8257_8258del (p.Ala2753fs)
NM_022124.6(CDH23):c.8309_8316del (p.Ala2770fs) rs2132988621
NM_022124.6(CDH23):c.8318_8319del (p.Glu2773fs)
NM_022124.6(CDH23):c.8343_8346dup (p.Gly2783fs) rs2132988732
NM_022124.6(CDH23):c.8371del (p.Leu2791fs)
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8433G>A (p.Trp2811Ter) rs757053706
NM_022124.6(CDH23):c.8444del (p.Arg2815fs)
NM_022124.6(CDH23):c.849del (p.Phe284fs) rs1861132418
NM_022124.6(CDH23):c.856del (p.Leu286fs) rs2132514996
NM_022124.6(CDH23):c.8639_8640del (p.Leu2880fs) rs2132990504
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter) rs767343063
NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) rs397517362
NM_022124.6(CDH23):c.8847C>G (p.Tyr2949Ter)
NM_022124.6(CDH23):c.8863C>T (p.Gln2955Ter)
NM_022124.6(CDH23):c.8del (p.Arg3fs)
NM_022124.6(CDH23):c.9012del (p.Phe3004fs)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9167del (p.Val3056fs) rs2133001560
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) rs773926246
NM_022124.6(CDH23):c.9296del (p.Lys3099fs) rs2133003011
NM_022124.6(CDH23):c.9319+1G>C rs2133003145
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.934del (p.Ile311_Leu312insTer) rs1861138703
NM_022124.6(CDH23):c.9375del (p.Phe3125fs)
NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs) rs2133006702
NM_022124.6(CDH23):c.9433C>T (p.Gln3145Ter)
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9466_9500del (p.Leu3156fs) rs2133007155
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9488G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9489del (p.Leu3162_Trp3163insTer) rs1841976391
NM_022124.6(CDH23):c.9501dup (p.Arg3168fs)
NM_022124.6(CDH23):c.9525_9526del (p.Glu3176fs) rs1841984743
NM_022124.6(CDH23):c.9525dup (p.Glu3176Ter) rs1841984906
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9561C>A (p.Tyr3187Ter)
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9633+1G>A

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