ClinVar Miner

List of variants in gene CDH23 reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 171
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HGVS dbSNP gnomAD frequency
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.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022124.6(CDH23):c.68-3C>T rs142456469 0.00018
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00010
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.336+1G>A rs764824311 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.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser) rs373164088 0.00005
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
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.7706G>A (p.Arg2569Gln) rs769627991 0.00002
NM_022124.6(CDH23):c.9970G>A (p.Glu3324Lys) rs763119683 0.00002
NM_022124.6(CDH23):c.1752+1G>A rs1347367555 0.00001
NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly) rs763577236 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 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.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.6319C>T (p.Arg2107Ter) rs1306728898 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.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 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.8803C>T (p.Arg2935Ter) rs1190307769 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.1087del (p.Val363fs) rs747955135
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
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.1535C>T (p.Thr512Met)
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter) rs779974496
NM_022124.6(CDH23):c.1859-1G>T rs1274105133
NM_022124.6(CDH23):c.1859-2A>G
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
NM_022124.6(CDH23):c.1987-1G>T
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter) rs1230303971
NM_022124.6(CDH23):c.2289+1G>C
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.2527del (p.Glu843fs)
NM_022124.6(CDH23):c.2587+1G>C
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
NM_022124.6(CDH23):c.288+2T>C
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.345_346del (p.Arg116fs)
NM_022124.6(CDH23):c.371A>G (p.Asp124Gly) rs751192273
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.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.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
NM_022124.6(CDH23):c.4747G>T (p.Gly1583Cys) rs775013186
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs) rs759981467
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
NM_022124.6(CDH23):c.489del (p.Gly165fs)
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer) rs2132927249
NM_022124.6(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.6(CDH23):c.5188-1G>A
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
NM_022124.6(CDH23):c.5502+2T>G
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.5931del (p.Leu1978fs)
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
NM_022124.6(CDH23):c.6050-1G>A rs762805265
NM_022124.6(CDH23):c.6133G>A (p.Asp2045Asn) rs121908348
NM_022124.6(CDH23):c.624+1G>A
NM_022124.6(CDH23):c.6307G>T (p.Glu2103Ter) rs1397549896
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
NM_022124.6(CDH23):c.6344del (p.Arg2115fs) rs1589424694
NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
NM_022124.6(CDH23):c.6393del (p.Ile2132fs) rs754876029
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6620del (p.Leu2207fs)
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.6821_6822del (p.Val2274fs)
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
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.7101G>A (p.Trp2367Ter)
NM_022124.6(CDH23):c.7210C>T (p.Gln2404Ter) rs2132968121
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
NM_022124.6(CDH23):c.7483-1G>A
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.7841del (p.Pro2614fs)
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.8197C>T (p.Gln2733Ter) rs1841758961
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.8309-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.8432G>A (p.Trp2811Ter) rs1841773052
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
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.8764del (p.Ala2922fs)
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
NM_022124.6(CDH23):c.913del (p.Leu305fs) rs1393567447
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022124.6(CDH23):c.9319+1G>T
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
NM_022124.6(CDH23):c.9489G>A (p.Trp3163Ter)
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_022124.6(CDH23):c.9658del (p.Glu3220fs) rs922700209
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022124.6(CDH23):c.9738+1G>T

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