ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 1D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 324
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736 0.00561
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158 0.00379
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483 0.00295
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318 0.00285
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560 0.00236
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233 0.00206
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737 0.00203
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.*68G>C rs527311705 0.00182
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440 0.00170
NM_022124.6(CDH23):c.*478G>C rs564392413 0.00166
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.*434G>A rs529522213 0.00133
NM_022124.6(CDH23):c.*430A>T rs562268606 0.00131
NM_022124.6(CDH23):c.5067+15G>A rs367928867 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.2954-15C>T rs376377077 0.00120
NM_022124.6(CDH23):c.1140+14T>C rs376753769 0.00113
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_022124.6(CDH23):c.-15C>A rs760922529 0.00101
NM_022124.6(CDH23):c.8980-12C>T rs111583276 0.00095
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_001164375.3(C10orf105):c.*3111C>T rs187975106 0.00061
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829 0.00045
NM_022124.6(CDH23):c.*76G>A rs545047958 0.00043
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00043
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182 0.00041
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_022124.6(CDH23):c.*141G>A rs535544696 0.00031
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570 0.00030
NM_022124.6(CDH23):c.*104G>C rs377312107 0.00029
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096 0.00027
NM_001384140.1(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351 0.00026
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091 0.00026
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610 0.00026
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.-55G>A rs939943382 0.00025
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.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139 0.00023
NM_022124.6(CDH23):c.*56G>A rs756856139 0.00021
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp) rs201763918 0.00021
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352 0.00021
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695 0.00020
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_022124.6(CDH23):c.-353C>G rs886047121 0.00019
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431 0.00019
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029 0.00019
NM_022124.6(CDH23):c.9633+14G>A rs376672264 0.00018
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.9510+14G>A rs188563959 0.00017
NM_022124.6(CDH23):c.2176+12C>T rs371967419 0.00016
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.3580-13C>T rs150894638 0.00016
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938 0.00016
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205 0.00014
NM_022124.6(CDH23):c.7362+14G>A rs78158757 0.00014
NM_022124.6(CDH23):c.8309-3C>T rs371910002 0.00014
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439 0.00013
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_001384140.1(PCDH15):c.4671+1355A>G rs372184022 0.00011
NM_022124.6(CDH23):c.*80G>A rs75715348 0.00011
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_022124.6(CDH23):c.*85G>A rs886047144 0.00010
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311 0.00010
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666 0.00010
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.8824G>A (p.Asp2942Asn) rs371286324 0.00010
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957 0.00009
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743 0.00009
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872 0.00009
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748 0.00009
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_022124.6(CDH23):c.2059+6G>A rs727502923 0.00008
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918 0.00008
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=) rs749913488 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189 0.00006
NM_022124.6(CDH23):c.2289C>T (p.Thr763=) rs770008354 0.00006
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val) rs202203105 0.00006
NM_022124.6(CDH23):c.324C>T (p.Ser108=) rs373668614 0.00006
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=) rs370983472 0.00006
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350 0.00006
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712 0.00006
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850 0.00006
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) rs753822806 0.00005
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622 0.00005
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589 0.00005
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465 0.00005
NM_022124.6(CDH23):c.8065-5C>A rs561693723 0.00005
NM_022124.6(CDH23):c.968G>A (p.Arg323His) rs181449189 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.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.205G>A (p.Val69Met) rs563224115 0.00004
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674 0.00004
NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser) rs749105554 0.00004
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=) rs369559033 0.00004
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser) rs781280613 0.00004
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901 0.00004
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347 0.00004
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210 0.00004
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=) rs761613739 0.00004
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly) rs754761193 0.00004
NM_022124.6(CDH23):c.8064+13C>A rs374981343 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652 0.00004
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726 0.00004
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln) rs776346516 0.00004
NM_022124.6(CDH23):c.9511-7T>C rs531195164 0.00004
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089 0.00004
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp) rs1434063011 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022124.6(CDH23):c.*83G>A rs886047143 0.00003
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152 0.00003
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=) rs774716336 0.00003
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138 0.00003
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655 0.00003
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418 0.00003
NM_022124.6(CDH23):c.559G>A (p.Val187Ile) rs369624952 0.00003
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp) rs750798211 0.00003
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760 0.00003
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135 0.00002
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.1858+6T>C rs745522676 0.00002
NM_022124.6(CDH23):c.2038G>A (p.Val680Met) rs760334573 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.2290-3C>T rs182365129 0.00002
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371 0.00002
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547 0.00002
NM_022124.6(CDH23):c.7054+6T>C rs750286810 0.00002
NM_022124.6(CDH23):c.7225-11C>G rs1393666972 0.00002
NM_022124.6(CDH23):c.7661-8A>G rs754067214 0.00002
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln) rs1235821368 0.00002
NM_022124.6(CDH23):c.8071T>C (p.Leu2691=) rs767480784 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=) rs367684899 0.00002
NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser) rs777886341 0.00001
NM_002778.4(PSAP):c.*238G>C rs1174797357 0.00001
NM_022124.6(CDH23):c.*1C>G rs768199443 0.00001
NM_022124.6(CDH23):c.*247C>T rs1209398908 0.00001
NM_022124.6(CDH23):c.*408G>A rs376837903 0.00001
NM_022124.6(CDH23):c.*439C>T rs140312023 0.00001
NM_022124.6(CDH23):c.*509C>T rs763532469 0.00001
NM_022124.6(CDH23):c.-185G>C rs545081281 0.00001
NM_022124.6(CDH23):c.-38G>C rs886047128 0.00001
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273 0.00001
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887 0.00001
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013 0.00001
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) rs374014052 0.00001
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131 0.00001
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln) rs753068359 0.00001
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) rs775017408 0.00001
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209 0.00001
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) rs760043975 0.00001
NM_022124.6(CDH23):c.28C>T (p.His10Tyr) rs971142356 0.00001
NM_022124.6(CDH23):c.2953+10C>T rs781572688 0.00001
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=) rs778344637 0.00001
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn) rs780886093 0.00001
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val) rs769888766 0.00001
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) rs1465588529 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn) rs983665281 0.00001
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.7055-15G>A rs371872394 0.00001
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe) rs373823262 0.00001
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141 0.00001
NM_022124.6(CDH23):c.789G>A (p.Gln263=) rs772466142 0.00001
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352 0.00001
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081 0.00001
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His) rs373600041 0.00001
NM_022124.6(CDH23):c.8979+13C>T rs886047142 0.00001
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met) rs1294837134 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017 0.00001
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His) rs1157786977 0.00001
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) rs557490269 0.00001
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736 0.00001
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_001384140.1(PCDH15):c.4672-1712_4672-1710del rs2132368553
NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala) rs775845546
NM_022124.6(CDH23):c.*481G>A rs1842115067
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-6+13A>C rs1847565256
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile) rs1862880669
NM_022124.6(CDH23):c.1566C>T (p.Asp522=) rs1864422770
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala) rs1864515873
NM_022124.6(CDH23):c.1986+10C>A rs1864699424
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) rs2132705726
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) rs1203928940
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala) rs1308326827
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) rs2132739969
NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)
NM_022124.6(CDH23):c.3613G>T (p.Ala1205Ser) rs886047134
NM_022124.6(CDH23):c.3614C>T (p.Ala1205Val) rs886047135
NM_022124.6(CDH23):c.367G>A (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.367G>C (p.Gly123Arg) rs727504513
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4210-12G>A rs115948943
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=) rs1564768174
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) rs773842427
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met) rs1446824013
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln) rs1483080564
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=) rs777270336
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) rs2132947982
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=) rs542473653
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) rs2132948196
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) rs2132359067
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu) rs780094972
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=) rs368155422
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu) rs761674470
NM_022124.6(CDH23):c.699C>T (p.Asp233=) rs752101206
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=) rs747310070
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=) rs1841760426
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His) rs202147495
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) rs2132514962
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys) rs1174493289
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr) rs1841789978
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys) rs376881824
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) rs2133006667
NM_022124.6(CDH23):c.9510+14G>T rs188563959
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) rs763993100
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly) rs532369554
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg) rs1842084788
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) rs2133017674
NM_033056.4(PCDH15):c.5152C>T (p.Pro1718Ser) rs1194313858
NM_033056.4(PCDH15):c.5281GCTCCT[1] (p.1761AP[1]) rs397517465
NM_033056.4(PCDH15):c.5573_5576dup (p.Lys1859delinsAsnTer) rs770082088
NM_033056.4(PCDH15):c.5650A>G (p.Arg1884Gly) rs2076305966

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