ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.5187+1G>A rs1280991447 0.00003
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.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.2177-2A>G rs1377982927 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.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.6049G>A (p.Gly2017Ser) rs183431253 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.902G>A (p.Arg301Gln) rs121908355 0.00001
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
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser)
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
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.1152C>A (p.Ser384Arg)
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.1752+2T>C rs1864433756
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.2059+1G>T
NM_022124.6(CDH23):c.2176+1G>A
NM_022124.6(CDH23):c.2290-1G>A
NM_022124.6(CDH23):c.2587+1G>A
NM_022124.6(CDH23):c.2588-1G>A
NM_022124.6(CDH23):c.2588-1G>T rs2132732963
NM_022124.6(CDH23):c.2733+1G>A rs2132733452
NM_022124.6(CDH23):c.2753A>T (p.Asp918Val)
NM_022124.6(CDH23):c.289-1G>A
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.2984del (p.Phe995fs) rs1554858698
NM_022124.6(CDH23):c.3106+2T>G
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3220+1G>T rs1487026359
NM_022124.6(CDH23):c.336+1del
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.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.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022124.6(CDH23):c.494G>T (p.Gly165Val) rs776354402
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5187+2T>C rs986154966
NM_022124.6(CDH23):c.5188-2A>G rs2132929231
NM_022124.6(CDH23):c.5368+2T>C
NM_022124.6(CDH23):c.5369-2A>G rs2132938020
NM_022124.6(CDH23):c.5502+1G>A
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.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.5821-1G>A
NM_022124.6(CDH23):c.5924-1G>A rs1841212177
NM_022124.6(CDH23):c.5924-2A>C rs2132947899
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.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.6712+2T>C
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.7362+1G>A rs2132968839
NM_022124.6(CDH23):c.7482+2T>C rs2132971828
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.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.790G>T (p.Asp264Tyr)
NM_022124.6(CDH23):c.8179-1G>A rs2132987509
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.8560+1G>A
NM_022124.6(CDH23):c.8561-1G>A rs2132990173
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg) rs767343063
NM_022124.6(CDH23):c.8722+2T>G rs2132990828
NM_022124.6(CDH23):c.8723-2A>G
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.9199-1G>A rs2133002032
NM_022124.6(CDH23):c.9270C>G (p.Tyr3090Ter) rs1564807887
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.9511-1G>A rs1293118415

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