ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic for adenoma

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 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.1752+1G>A rs1347367555 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.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 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.1120_1123del (p.Val374fs)
NM_022124.6(CDH23):c.1143_1176del rs764949139
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.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.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.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.4720_4721del (p.Met1574fs)
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.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.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.624+1G>A
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.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.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.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.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.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.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.9381-2A>G
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
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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