ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.5187+1G>A rs1280991447 0.00003
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.3220G>A (p.Asp1074Asn) rs750452808 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
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.(?_73326479)_(73337769_?)dup
NC_000010.10:g.(?_73337661)_(73337759_?)dup
NC_000010.10:g.(?_73537417)_(73551112_?)dup
NC_000010.10:g.(?_73548677)_(73551112_?)dup
NC_000010.10:g.(?_73550025)_(73565774_?)dup
NC_000010.10:g.(?_73571434)_(73572534_?)del
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser)
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.1449+5G>A
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.1450-1G>A
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.2397+1G>C
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.2954-2A>G
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.4210-1G>A rs1166948274
NM_022124.6(CDH23):c.4210-2A>G rs557620034
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.5187+2T>C rs986154966
NM_022124.6(CDH23):c.5188-2A>G rs2132929231
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.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.6712+2T>C
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.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.9078-2A>G
NM_022124.6(CDH23):c.9199-1G>A rs2133002032
NM_022124.6(CDH23):c.9278+2T>G rs2133002381
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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