ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 183
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00080
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562 0.00068
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00055
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.9617G>A (p.Arg3206His) rs374156784 0.00034
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022124.6(CDH23):c.2341G>A (p.Ala781Thr) rs375918283 0.00031
NM_022124.6(CDH23):c.6377G>A (p.Arg2126His) rs201942629 0.00031
NM_022124.6(CDH23):c.2171G>A (p.Arg724His) rs374955091 0.00030
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.1134+53C>A rs572222393 0.00029
NM_022124.6(CDH23):c.5831T>C (p.Leu1944Ser) rs201876362 0.00027
NM_022124.6(CDH23):c.1637G>A (p.Arg546Gln) rs199508694 0.00026
NM_022124.6(CDH23):c.4621G>A (p.Val1541Met) rs565657378 0.00026
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873 0.00025
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.6026T>A (p.Leu2009His) rs201067092 0.00025
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00023
NM_022124.6(CDH23):c.8407G>A (p.Val2803Ile) rs369697366 0.00022
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.1581G>T (p.Gln527His) rs552906420 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) rs372636295 0.00015
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.4498T>A (p.Ser1500Thr) rs375641853 0.00014
NM_022124.6(CDH23):c.3220+5G>A rs977262704 0.00013
NM_022124.6(CDH23):c.1449+43C>T rs550931640 0.00011
NM_022124.6(CDH23):c.1514+6A>G rs367949981 0.00011
NM_022124.6(CDH23):c.1520C>T (p.Ser507Leu) rs201584731 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu) rs373168635 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.7361C>T (p.Thr2454Met) rs772949926 0.00009
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_022124.6(CDH23):c.9413G>A (p.Arg3138Gln) rs372676235 0.00009
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_022124.6(CDH23):c.4664G>A (p.Arg1555His) rs727502927 0.00007
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.9381-123C>A rs775172553 0.00007
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.1867G>A (p.Val623Ile) rs143782870 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.4582G>A (p.Glu1528Lys) rs201533282 0.00006
NM_022124.6(CDH23):c.460G>A (p.Val154Met) rs199741966 0.00006
NM_022124.6(CDH23):c.5471G>A (p.Arg1824His) rs111033491 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.7568C>T (p.Pro2523Leu) rs369761606 0.00006
NM_022124.6(CDH23):c.8225C>T (p.Pro2742Leu) rs758360283 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.9883A>C (p.Thr3295Pro) rs781716568 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) rs200733236 0.00006
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1450-10G>A rs751220612 0.00004
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) rs200263980 0.00004
NM_022124.6(CDH23):c.2500C>T (p.Arg834Cys) rs372387390 0.00004
NM_022124.6(CDH23):c.269G>A (p.Arg90Gln) rs397517317 0.00004
NM_022124.6(CDH23):c.2876C>T (p.Ala959Val) rs779133533 0.00004
NM_022124.6(CDH23):c.499G>A (p.Val167Ile) rs772995621 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5713-9A>G rs397517343 0.00004
NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) rs558551826 0.00004
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.623C>T (p.Thr208Ile) rs749123528 0.00004
NM_022124.6(CDH23):c.6655G>A (p.Asp2219Asn) rs555684781 0.00004
NM_022124.6(CDH23):c.7615G>C (p.Gly2539Arg) rs373649718 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_022124.6(CDH23):c.10007C>T (p.Pro3336Leu) rs727504532 0.00003
NM_022124.6(CDH23):c.130G>A (p.Glu44Lys) rs1390133151 0.00003
NM_022124.6(CDH23):c.2032G>A (p.Val678Ile) rs547668692 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.6559G>A (p.Ala2187Thr) rs727504841 0.00003
NM_022124.6(CDH23):c.7466G>A (p.Arg2489His) rs141986620 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) rs727504725 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_022124.6(CDH23):c.10018C>T (p.Leu3340Phe) rs376537401 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.5168G>A (p.Arg1723His) rs189361642 0.00002
NM_022124.6(CDH23):c.5632G>A (p.Ala1878Thr) rs757570269 0.00002
NM_022124.6(CDH23):c.7177G>A (p.Val2393Met) rs775436759 0.00002
NM_022124.6(CDH23):c.752C>T (p.Pro251Leu) rs746961144 0.00002
NM_022124.6(CDH23):c.10027G>A (p.Val3343Met) rs756425157 0.00001
NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys) rs778511495 0.00001
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) rs397517308 0.00001
NM_022124.6(CDH23):c.1583G>A (p.Arg528His) rs761468283 0.00001
NM_022124.6(CDH23):c.1660G>A (p.Val554Ile) rs727504910 0.00001
NM_022124.6(CDH23):c.1678A>G (p.Thr560Ala) rs767986806 0.00001
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00001
NM_022124.6(CDH23):c.1859T>C (p.Val620Ala) rs775889210 0.00001
NM_022124.6(CDH23):c.2008A>T (p.Thr670Ser) rs1304555485 0.00001
NM_022124.6(CDH23):c.2104C>T (p.Arg702Trp) rs528779319 0.00001
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00001
NM_022124.6(CDH23):c.2836G>A (p.Val946Met) rs931850625 0.00001
NM_022124.6(CDH23):c.2840T>A (p.Val947Glu) rs397517318 0.00001
NM_022124.6(CDH23):c.2870G>A (p.Arg957His) rs748047907 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.4359G>C (p.Gln1453His) rs1435336806 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4694A>C (p.Tyr1565Ser) rs727504606 0.00001
NM_022124.6(CDH23):c.4730G>A (p.Arg1577His) rs771464282 0.00001
NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) rs762005355 0.00001
NM_022124.6(CDH23):c.5353G>A (p.Asp1785Asn) rs397517338 0.00001
NM_022124.6(CDH23):c.6367G>A (p.Gly2123Arg) rs727504894 0.00001
NM_022124.6(CDH23):c.6465G>A (p.Ser2155=) rs373462599 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.6664C>T (p.Arg2222Cys) rs761082272 0.00001
NM_022124.6(CDH23):c.6829+3A>G rs780258798 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7132G>A (p.Gly2378Arg) rs181197242 0.00001
NM_022124.6(CDH23):c.7517G>A (p.Arg2506Gln) rs727502932 0.00001
NM_022124.6(CDH23):c.7685C>T (p.Ser2562Leu) rs538435711 0.00001
NM_022124.6(CDH23):c.8065-9C>T rs397517355 0.00001
NM_022124.6(CDH23):c.8257G>A (p.Ala2753Thr) rs397517356 0.00001
NM_022124.6(CDH23):c.8404A>G (p.Ile2802Val) rs766924822 0.00001
NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) rs397517361 0.00001
NM_022124.6(CDH23):c.8G>A (p.Arg3His) rs397517363 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) rs370087572 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022124.6(CDH23):c.9264G>C (p.Trp3088Cys) rs876657759 0.00001
NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) rs754557923 0.00001
NC_000010.11:g.71807935_71807952del rs397517359
NM_022124.5(CDH23):c.[7762G>C;7764G>T]
NM_022124.6(CDH23):c.1134+26G>A rs2132520415
NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu) rs1554850744
NM_022124.6(CDH23):c.137C>A (p.Thr46Lys) rs727504613
NM_022124.6(CDH23):c.1542CAT[1] (p.Ile515del) rs727502922
NM_022124.6(CDH23):c.1853A>G (p.Tyr618Cys) rs778493031
NM_022124.6(CDH23):c.2096A>T (p.Asp699Val) rs1554856028
NM_022124.6(CDH23):c.2289+6T>G rs727502924
NM_022124.6(CDH23):c.2330C>A (p.Thr777Lys) rs199709482
NM_022124.6(CDH23):c.2954-5del rs766850828
NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser) rs727505173
NM_022124.6(CDH23):c.3067G>A (p.Asp1023Asn) rs1064796283
NM_022124.6(CDH23):c.3106+4C>T rs1900497
NM_022124.6(CDH23):c.3133G>T (p.Val1045Leu) rs377100683
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser) rs1554864704
NM_022124.6(CDH23):c.4555G>C (p.Asp1519His) rs397517330
NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys) rs755926639
NM_022124.6(CDH23):c.5053A>G (p.Ile1685Val)
NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile) rs397517336
NM_022124.6(CDH23):c.5668A>T (p.Ile1890Phe) rs1841063934
NM_022124.6(CDH23):c.5674G>A (p.Ala1892Thr) rs727505054
NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) rs763582705
NM_022124.6(CDH23):c.5821G>A (p.Asp1941Asn) rs1589421960
NM_022124.6(CDH23):c.5869_5874del (p.Pro1957_Leu1958del) rs397517345
NM_022124.6(CDH23):c.6011G>A (p.Gly2004Asp) rs745568647
NM_022124.6(CDH23):c.6253+4A>G rs1554874375
NM_022124.6(CDH23):c.6654C>A (p.Asp2218Glu) rs537236734
NM_022124.6(CDH23):c.6713G>C (p.Gly2238Ala) rs727502928
NM_022124.6(CDH23):c.6718G>A (p.Val2240Ile) rs727504694
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.7442C>G (p.Pro2481Arg) rs397517351
NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn) rs397517352
NM_022124.6(CDH23):c.754-3dup rs730880346
NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) rs548188123
NM_022124.6(CDH23):c.7661-14G>C rs767603792
NM_022124.6(CDH23):c.781A>C (p.Ile261Leu) rs876657757
NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe) rs759319741
NM_022124.6(CDH23):c.8283C>G (p.Asn2761Lys) rs397517357
NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del) rs876657758
NM_022124.6(CDH23):c.8710G>A (p.Val2904Ile) rs746121407
NM_022124.6(CDH23):c.8792A>C (p.Asp2931Ala) rs727502934
NM_022124.6(CDH23):c.9086A>C (p.Gln3029Pro) rs397517365
NM_022124.6(CDH23):c.9278+2dup rs727502935
NM_022124.6(CDH23):c.9283A>G (p.Lys3095Glu) rs876657760
NM_022124.6(CDH23):c.9746A>G (p.Gln3249Arg) rs876657761

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