ClinVar Miner

List of variants studied for Usher syndrome type 1D

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 415
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HGVS dbSNP
NM_001142763.1:c.-189197_c.610-5166del
NM_002778.4(PSAP):c.*238G>C
NM_022124.6(CDH23):c.*104G>C rs377312107
NM_022124.6(CDH23):c.*141G>A rs535544696
NM_022124.6(CDH23):c.*173C>T
NM_022124.6(CDH23):c.*1C>G rs768199443
NM_022124.6(CDH23):c.*204A>G rs2290022
NM_022124.6(CDH23):c.*247C>T
NM_022124.6(CDH23):c.*349A>G rs1867978
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*408G>A
NM_022124.6(CDH23):c.*430A>T rs562268606
NM_022124.6(CDH23):c.*434G>A rs529522213
NM_022124.6(CDH23):c.*439C>T rs140312023
NM_022124.6(CDH23):c.*478G>C rs564392413
NM_022124.6(CDH23):c.*481G>A
NM_022124.6(CDH23):c.*509C>T
NM_022124.6(CDH23):c.*510G>A rs1054635
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.*56G>A
NM_022124.6(CDH23):c.*612G>A rs886047147
NM_022124.6(CDH23):c.*68G>C rs527311705
NM_022124.6(CDH23):c.*76G>A
NM_022124.6(CDH23):c.*80G>A rs75715348
NM_022124.6(CDH23):c.*83G>A rs886047143
NM_022124.6(CDH23):c.*85G>A rs886047144
NM_022124.6(CDH23):c.-15C>A rs760922529
NM_022124.6(CDH23):c.-168C>T rs886047126
NM_022124.6(CDH23):c.-185G>C rs545081281
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.-276G>A rs886047123
NM_022124.6(CDH23):c.-346G>T rs886047122
NM_022124.6(CDH23):c.-353C>G rs886047121
NM_022124.6(CDH23):c.-38G>C rs886047128
NM_022124.6(CDH23):c.-55G>A
NM_022124.6(CDH23):c.-6+13A>C
NM_022124.6(CDH23):c.10010T>C (p.Leu3337Pro) rs746750273
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.10042C>A (p.Pro3348Thr) rs745358868
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1061G>A (p.Ser354Asn) rs200792189
NM_022124.6(CDH23):c.1062C>T (p.Ser354=) rs775091135
NM_022124.6(CDH23):c.1068C>T (p.Ala356=) rs141247813
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1140+14T>C
NM_022124.6(CDH23):c.1168T>C (p.Leu390=) rs369803887
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920
NM_022124.6(CDH23):c.1421C>T (p.Thr474Ile)
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1450-10G>A rs751220612
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_022124.6(CDH23):c.1566C>T (p.Asp522=)
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1607G>A (p.Arg536Gln) rs376414013
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.1751G>A (p.Arg584Gln) rs776970952
NM_022124.6(CDH23):c.1756A>G (p.Thr586Ala)
NM_022124.6(CDH23):c.1778A>C (p.Asn593Thr) rs756958499
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.1858+6T>C rs745522676
NM_022124.6(CDH23):c.193del (p.Leu65fs) rs796051861
NM_022124.6(CDH23):c.1963G>A (p.Val655Ile) rs374805957
NM_022124.6(CDH23):c.1986+10C>A
NM_022124.6(CDH23):c.1987-1G>A rs1060499714
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2038G>A (p.Val680Met)
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2059+6G>A rs727502923
NM_022124.6(CDH23):c.205G>A (p.Val69Met)
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2176+12C>T rs371967419
NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.2289+1G>A rs769433759
NM_022124.6(CDH23):c.2289C>T (p.Thr763=)
NM_022124.6(CDH23):c.2290-3C>T
NM_022124.6(CDH23):c.2310C>T (p.Asp770=) rs886047131
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2353A>C (p.Ile785Leu) rs886047132
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658
NM_022124.6(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.6(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.6(CDH23):c.259G>T (p.Val87Leu) rs759917997
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.6(CDH23):c.2792T>C (p.Val931Ala)
NM_022124.6(CDH23):c.2794G>A (p.Gly932Ser) rs373305209
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.6(CDH23):c.2869C>T (p.Arg957Cys) rs532018311
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.28C>T (p.His10Tyr)
NM_022124.6(CDH23):c.2909C>T (p.Ala970Val)
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099
NM_022124.6(CDH23):c.2953+10C>T rs781572688
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2954-15C>T rs376377077
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3069C>T (p.Asp1023=)
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320
NM_022124.6(CDH23):c.3106+11G>A
NM_022124.6(CDH23):c.3118G>T (p.Asp1040Tyr) rs200177873
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3213G>A (p.Glu1071=) rs140255091
NM_022124.6(CDH23):c.321C>G (p.Val107=) rs761122371
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.324C>T (p.Ser108=)
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686
NM_022124.6(CDH23):c.3328A>G (p.Ser1110Gly) rs757508152
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3369+12G>A rs187975106
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His)
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3547C>A (p.His1183Asn)
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391
NM_022124.6(CDH23):c.3580-12C>T rs73275848
NM_022124.6(CDH23):c.3580-13C>T rs150894638
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.3619G>A (p.Val1207Met) rs111033488
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.3678G>A (p.Thr1226=)
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.3739C>T (p.Arg1247Cys) rs202204597
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.3839_3841TGA[1] (p.Met1281del) rs796051860
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457
NM_022124.6(CDH23):c.385G>A (p.Ala129Thr) rs200328570
NM_022124.6(CDH23):c.386C>T (p.Ala129Val) rs183046743
NM_022124.6(CDH23):c.3880C>T (p.Gln1294Ter) rs121908350
NM_022124.6(CDH23):c.3895G>A (p.Val1299Ile) rs201610096
NM_022124.6(CDH23):c.3915C>T (p.Asn1305=) rs568924674
NM_022124.6(CDH23):c.3929C>A (p.Ala1310Asp) rs483353051
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) rs201877610
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4005C>G (p.Val1335=) rs886047136
NM_022124.6(CDH23):c.4045C>T (p.Arg1349Cys) rs41281318
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4103C>T (p.Thr1368Met) rs762247872
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4179C>T (p.Asp1393=) rs571668370
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096
NM_022124.6(CDH23):c.4210-12G>A
NM_022124.6(CDH23):c.4210-2A>G rs557620034
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.4275G>A (p.Ala1425=)
NM_022124.6(CDH23):c.429+13G>A rs3802719
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4346G>A (p.Gly1449Asp) rs544278944
NM_022124.6(CDH23):c.4356G>A (p.Gly1452=)
NM_022124.6(CDH23):c.4359+11G>A rs12242607
NM_022124.6(CDH23):c.4390G>A (p.Ala1464Thr) rs756674688
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365
NM_022124.6(CDH23):c.4451C>T (p.Pro1484Leu) rs371145622
NM_022124.6(CDH23):c.4488G>C (p.Gln1496His) rs121908347
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln)
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319
NM_022124.6(CDH23):c.4687C>A (p.Leu1563Met)
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
NM_022124.6(CDH23):c.4780C>T (p.Arg1594Cys) rs200664666
NM_022124.6(CDH23):c.4795T>C (p.Phe1599Leu) rs886047137
NM_022124.6(CDH23):c.4842G>C (p.Leu1614=) rs368377560
NM_022124.6(CDH23):c.4857C>T (p.His1619=) rs369817589
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269
NM_022124.6(CDH23):c.4897A>G (p.Met1633Val)
NM_022124.6(CDH23):c.4913A>C (p.His1638Pro) rs886047138
NM_022124.6(CDH23):c.4984C>T (p.Leu1662=) rs886047139
NM_022124.6(CDH23):c.5002G>A (p.Gly1668Ser)
NM_022124.6(CDH23):c.5022C>T (p.Ile1674=) rs376952695
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5037C>T (p.Ile1679=) rs757049933
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.5067+15G>A rs367928867
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5112C>T (p.His1704=)
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194
NM_022124.6(CDH23):c.5236C>T (p.Arg1746Trp)
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270
NM_022124.6(CDH23):c.5248G>A (p.Gly1750Arg) rs372822465
NM_022124.6(CDH23):c.5257G>A (p.Glu1753Lys) rs759706770
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5328C>A (p.Asn1776Lys) rs371522191
NM_022124.6(CDH23):c.5397G>A (p.Gly1799=)
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5519G>A (p.Arg1840Gln) rs375083901
NM_022124.6(CDH23):c.5523G>A (p.Val1841=) rs369513655
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5542G>A (p.Asp1848Asn) rs188078418
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.559G>A (p.Val187Ile)
NM_022124.6(CDH23):c.5627G>A (p.Ser1876Asn)
NM_022124.6(CDH23):c.5647A>C (p.Asn1883His) rs747488431
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5686G>C (p.Glu1896Gln)
NM_022124.6(CDH23):c.5689C>T (p.Arg1897Trp)
NM_022124.6(CDH23):c.5711C>T (p.Thr1904Met) rs372981760
NM_022124.6(CDH23):c.5721C>A (p.Ile1907=)
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.6(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.5865C>T (p.Asn1955=) rs762382800
NM_022124.6(CDH23):c.5871C>G (p.Pro1957=) rs368122233
NM_022124.6(CDH23):c.588G>A (p.Glu196=) rs886047129
NM_022124.6(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.6(CDH23):c.5937G>A (p.Thr1979=) rs397517347
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.5970A>G (p.Ala1990=)
NM_022124.6(CDH23):c.5985C>T (p.Tyr1995=) rs370762205
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6000C>A (p.Tyr2000Ter) rs1564794944
NM_022124.6(CDH23):c.6004C>G (p.Leu2002Val) rs756459547
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253
NM_022124.6(CDH23):c.6050-9G>A rs367928692
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_022124.6(CDH23):c.6320G>T (p.Arg2107Leu)
NM_022124.6(CDH23):c.6333G>A (p.Gly2111=)
NM_022124.6(CDH23):c.6376C>T (p.Arg2126Cys) rs776269225
NM_022124.6(CDH23):c.6421A>G (p.Arg2141Gly) rs376414352
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.6547G>A (p.Val2183Met) rs370794439
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6649A>G (p.Lys2217Glu)
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.67+12C>T rs74144963
NM_022124.6(CDH23):c.67+8C>T rs186548927
NM_022124.6(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495
NM_022124.6(CDH23):c.699C>T (p.Asp233=)
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7050G>A (p.Ser2350=)
NM_022124.6(CDH23):c.7054+6T>C
NM_022124.6(CDH23):c.7055-15G>A rs371872394
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7091A>G (p.Glu2364Gly) rs758727384
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.6(CDH23):c.7225-11C>G
NM_022124.6(CDH23):c.7362+14G>A rs78158757
NM_022124.6(CDH23):c.7362+5G>A rs727502931
NM_022124.6(CDH23):c.7382C>T (p.Ser2461Phe)
NM_022124.6(CDH23):c.7461C>T (p.Asn2487=)
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.7482+12C>A rs370000472
NM_022124.6(CDH23):c.7551C>T (p.Ser2517=) rs886047140
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022124.6(CDH23):c.7661-8A>G
NM_022124.6(CDH23):c.7720T>C (p.Tyr2574His) rs886047141
NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.789G>A (p.Gln263=)
NM_022124.6(CDH23):c.7999G>C (p.Asp2667His) rs200251748
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8009G>A (p.Ser2670Asn) rs749342092
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8062A>G (p.Ser2688Gly)
NM_022124.6(CDH23):c.8064+13C>A
NM_022124.6(CDH23):c.8065-5C>A
NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022124.6(CDH23):c.8244C>T (p.Gly2748=)
NM_022124.6(CDH23):c.8290G>A (p.Val2764Met) rs556148352
NM_022124.6(CDH23):c.8309-3C>T rs371910002
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440
NM_022124.6(CDH23):c.8344G>C (p.Asp2782His)
NM_022124.6(CDH23):c.836A>G (p.Asn279Ser) rs886047130
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His)
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254
NM_022124.6(CDH23):c.856C>T (p.Leu286=) rs727502918
NM_022124.6(CDH23):c.8644T>C (p.Phe2882Leu) rs761210350
NM_022124.6(CDH23):c.8672T>G (p.Phe2891Cys)
NM_022124.6(CDH23):c.8743C>T (p.Arg2915Cys) rs185818081
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.6(CDH23):c.8823C>T (p.Asn2941=) rs370184182
NM_022124.6(CDH23):c.8824G>A (p.Asp2942Asn) rs371286324
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139
NM_022124.6(CDH23):c.8886C>A (p.Asn2962Lys)
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8899C>T (p.Arg2967Cys) rs373602652
NM_022124.6(CDH23):c.8900G>A (p.Arg2967His)
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.8914G>A (p.Glu2972Lys) rs746716712
NM_022124.6(CDH23):c.8931C>T (p.His2977=) rs781099726
NM_022124.6(CDH23):c.8979+13C>T rs886047142
NM_022124.6(CDH23):c.8980-12C>T rs111583276
NM_022124.6(CDH23):c.8980-14C>A rs45522532
NM_022124.6(CDH23):c.8986G>A (p.Val2996Met)
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9014C>T (p.Ala3005Val) rs188966938
NM_022124.6(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9108G>A (p.Glu3036=) rs768198017
NM_022124.6(CDH23):c.9116G>A (p.Arg3039Gln)
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.6(CDH23):c.9319+11G>A rs11000013
NM_022124.6(CDH23):c.9326G>A (p.Arg3109His) rs200188029
NM_022124.6(CDH23):c.9337G>C (p.Asp3113His)
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.6(CDH23):c.945+1G>A rs727502919
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721
NM_022124.6(CDH23):c.9510+13C>T rs183692794
NM_022124.6(CDH23):c.9510+14G>A
NM_022124.6(CDH23):c.9510+14G>T
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197
NM_022124.6(CDH23):c.9511-7T>C rs531195164
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_022124.6(CDH23):c.960C>T (p.Asn320=) rs756644736
NM_022124.6(CDH23):c.9616C>T (p.Arg3206Cys) rs778711089
NM_022124.6(CDH23):c.9633+14G>A
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457
NM_022124.6(CDH23):c.968G>A (p.Arg323His)
NM_022124.6(CDH23):c.9694C>T (p.Arg3232Trp)
NM_022124.6(CDH23):c.9739-12G>A rs200638595
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.6(CDH23):c.9805C>G (p.Arg3269Gly)
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987
NM_022124.6(CDH23):c.9832G>A (p.Gly3278Arg)
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827
NM_022124.6(CDH23):c.9933G>A (p.Ser3311=)
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2971C>T (p.Arg991Ter) rs754391973
NM_033056.4(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.4(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363
NM_033056.4(PCDH15):c.3857T>A (p.Val1286Glu) rs375292203
NM_033056.4(PCDH15):c.733C>T (p.Arg245Ter) rs111033260

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