ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 402
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HGVS dbSNP
NM_000260.3(MYO7A):c.29T>C rs878853237
NM_000260.3(MYO7A):c.3028_3029ins15 (p.?) rs782367511
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.1117C>T (p.Arg373Cys) rs868979094
NM_000260.4(MYO7A):c.1123C>G (p.Leu375Val) rs782728522
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783
NM_000260.4(MYO7A):c.1133G>A (p.Arg378His) rs397516282
NM_000260.4(MYO7A):c.1135G>A (p.Gly379Arg) rs878853377
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743
NM_000260.4(MYO7A):c.1172C>T (p.Ala391Val) rs1555067608
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1189G>A (p.Ala397Thr) rs1297886521
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1232T>C (p.Val411Ala) rs369916141
NM_000260.4(MYO7A):c.133-7_146dup rs1555054558
NM_000260.4(MYO7A):c.1348G>C (p.Glu450Gln) rs1269622956
NM_000260.4(MYO7A):c.1401_1403dup (p.His468_Val469insGln) rs111033219
NM_000260.4(MYO7A):c.1403A>G (p.His468Arg) rs200304238
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1575_1592del (p.Ser530_Asn535del) rs1555070062
NM_000260.4(MYO7A):c.1588_1605dup (p.Ser530_Asn535dup) rs1555070084
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.4(MYO7A):c.1721A>C (p.His574Pro) rs397516287
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1798-3C>G rs1555076939
NM_000260.4(MYO7A):c.182C>G (p.Pro61Arg) rs397516289
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.1945C>T (p.Arg649Trp) rs782503314
NM_000260.4(MYO7A):c.196_210del (p.Gly66_Met70del) rs1555054736
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369
NM_000260.4(MYO7A):c.2266C>T (p.Arg756Trp) rs782174733
NM_000260.4(MYO7A):c.2386C>G (p.Arg796Gly) rs111033339
NM_000260.4(MYO7A):c.2387G>A (p.Arg796Gln) rs111033224
NM_000260.4(MYO7A):c.2488C>T (p.Arg830Cys) rs797044493
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.4(MYO7A):c.2522T>C (p.Leu841Pro) rs397516296
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2724C>G (p.Asp908Glu) rs199979876
NM_000260.4(MYO7A):c.2960C>T (p.Pro987Leu) rs397516298
NM_000260.4(MYO7A):c.3049_3051del (p.Tyr1017del) rs1180304045
NM_000260.4(MYO7A):c.3109-27_3109-7dup rs1555085333
NM_000260.4(MYO7A):c.3134T>C (p.Ile1045Thr) rs377326213
NM_000260.4(MYO7A):c.318C>G (p.Asn106Lys) rs1555061483
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) rs375050157
NM_000260.4(MYO7A):c.3375+3G>A rs397516299
NM_000260.4(MYO7A):c.3397G>A (p.Gly1133Arg) rs782313913
NM_000260.4(MYO7A):c.3437G>A (p.Arg1146Gln) rs782140421
NM_000260.4(MYO7A):c.3451C>G (p.Leu1151Val) rs782465732
NM_000260.4(MYO7A):c.3472A>G (p.Ile1158Val) rs797044517
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886
NM_000260.4(MYO7A):c.3502C>T (p.Arg1168Trp) rs554073390
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.3560G>T (p.Ser1187Ile) rs1555090314
NM_000260.4(MYO7A):c.358C>A (p.Arg120Ser) rs397516302
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637
NM_000260.4(MYO7A):c.3610C>A (p.Pro1204Thr) rs1555090442
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036
NM_000260.4(MYO7A):c.3701C>G (p.Thr1234Ser) rs775908821
NM_000260.4(MYO7A):c.3750+5G>A rs111033391
NM_000260.4(MYO7A):c.3797A>G (p.Asp1266Gly) rs781670345
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838
NM_000260.4(MYO7A):c.3856G>A (p.Ala1286Thr) rs727503328
NM_000260.4(MYO7A):c.3924G>A (p.Lys1308=) rs1349274983
NM_000260.4(MYO7A):c.392C>T (p.Pro131Leu) rs1555061692
NM_000260.4(MYO7A):c.3943G>A (p.Gly1315Ser) rs769771981
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.397C>G (p.His133Asp) rs111033403
NM_000260.4(MYO7A):c.3998_4012del (p.Gln1333_Glu1337del) rs1555092931
NM_000260.4(MYO7A):c.4018G>A (p.Ala1340Thr) rs376291076
NM_000260.4(MYO7A):c.4029G>C (p.Arg1343Ser) rs763469001
NM_000260.4(MYO7A):c.4033_4035TTC[1] (p.Phe1346del) rs1437625274
NM_000260.4(MYO7A):c.4039C>A (p.Arg1347Ser) rs111534474
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-11C>T rs727503330
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4153-8C>G rs143216377
NM_000260.4(MYO7A):c.4195G>C (p.Asp1399His) rs373080197
NM_000260.4(MYO7A):c.4280C>T (p.Thr1427Met) rs547006116
NM_000260.4(MYO7A):c.4338_4340GAG[1] (p.Arg1448del) rs1432069074
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.449G>A (p.Arg150Gln) rs202245413
NM_000260.4(MYO7A):c.4837_4839dup (p.Asp1613dup) rs1555100610
NM_000260.4(MYO7A):c.4844C>T (p.Pro1615Leu) rs201321140
NM_000260.4(MYO7A):c.484G>A (p.Ala162Thr) rs111033485
NM_000260.4(MYO7A):c.4921G>A (p.Glu1641Lys) rs767975012
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.5065G>A (p.Asp1689Asn) rs544639673
NM_000260.4(MYO7A):c.5095C>G (p.Gln1699Glu) rs530520654
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275
NM_000260.4(MYO7A):c.5246G>A (p.Arg1749Gln) rs781537330
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903
NM_000260.4(MYO7A):c.5560G>A (p.Val1854Met) rs754761542
NM_000260.4(MYO7A):c.5753T>A (p.Val1918Glu) rs1555106562
NM_000260.4(MYO7A):c.578C>T (p.Thr193Ile) rs1188616455
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5857-3C>A rs727505114
NM_000260.4(MYO7A):c.593-4G>A rs876657534
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6092G>A (p.Arg2031Gln) rs762258869
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954
NM_000260.4(MYO7A):c.6220C>T (p.Pro2074Ser) rs747131589
NM_000260.4(MYO7A):c.6235C>T (p.Arg2079Trp) rs759614902
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486
NM_000260.4(MYO7A):c.6349G>T (p.Val2117Leu) rs1555109788
NM_000260.4(MYO7A):c.6350T>C (p.Val2117Ala) rs1555109806
NM_000260.4(MYO7A):c.6433del (p.Thr2145fs) rs1555110680
NM_000260.4(MYO7A):c.6459del (p.Phe2154fs) rs1555111077
NM_000260.4(MYO7A):c.6478T>G (p.Trp2160Gly) rs1003695470
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.6628_6643del (p.Gly2210fs) rs1555111501
NM_000260.4(MYO7A):c.736-3C>T rs1555063792
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_001142769.3(PCDH15):c.4410-943G>A rs1554816509
NM_001142769.3(PCDH15):c.4450C>A (p.Pro1484Thr) rs1554816211
NM_001142769.3(PCDH15):c.4454C>T (p.Pro1485Leu) rs1554816210
NM_001142769.3(PCDH15):c.4465G>T (p.Glu1489Ter) rs1554816196
NM_001142769.3(PCDH15):c.4492_4503del (p.Ala1498_Glu1501del) rs1554816165
NM_001142769.3(PCDH15):c.4519-1G>A rs1554815909
NM_001142771.1(PCDH15):c.4692_4695dup (p.Lys1566Leufs) rs757520086
NM_001142771.1(PCDH15):c.4934_4937dup (p.Ser1646Argfs) rs1554814669
NM_001142771.2(PCDH15):c.4497+1077_4497+1082del rs1253885211
NM_001142771.2(PCDH15):c.4497+1257_4497+1258del rs1554815781
NM_001142771.2(PCDH15):c.4497+1297_4497+1300dup rs1343032451
NM_001142771.2(PCDH15):c.4497+1355_4497+1359dup rs1554815732
NM_001142771.2(PCDH15):c.4497+1403GAG[5] rs1272584101
NM_001142771.2(PCDH15):c.4497+1412G>T rs1467453189
NM_001142771.2(PCDH15):c.4497+1420del rs778088114
NM_001142771.2(PCDH15):c.4497+1511_4497+1519del rs1554815654
NM_001142771.2(PCDH15):c.4497+1523G>T rs755005336
NM_001142771.2(PCDH15):c.4497+1550C>T rs765589050
NM_001142771.2(PCDH15):c.4497+1559C>T rs368397508
NM_001142771.2(PCDH15):c.4497+1617_4497+1637del rs769671738
NM_001142771.2(PCDH15):c.4497+1708_4497+1711dup rs1554815534
NM_001142771.2(PCDH15):c.4498-1564T>C rs193186244
NM_001142771.2(PCDH15):c.4498-1648_4498-1644dup rs1554815468
NM_001142771.2(PCDH15):c.4498-1666G>T rs1297423576
NM_001142771.2(PCDH15):c.4498-1709_4498-1706dup rs1554815527
NM_001142771.2(PCDH15):c.4498-2A>G rs1554814991
NM_001142771.2(PCDH15):c.4514_4517dup (p.Lys1507fs) rs1442769492
NM_001142771.2(PCDH15):c.4534C>T (p.Arg1512Ter) rs770416107
NM_001142771.2(PCDH15):c.4548del (p.Ser1517fs) rs778963761
NM_001142771.2(PCDH15):c.4555_4560dup (p.Thr1519_Gly1520dup) rs1554814938
NM_001142771.2(PCDH15):c.4565_4568dup (p.Ser1523fs) rs1554814927
NM_001142771.2(PCDH15):c.4654_4661del (p.Ser1552fs) rs750833316
NM_001142771.2(PCDH15):c.4740del (p.Asp1581fs) rs1554814800
NM_001142771.2(PCDH15):c.4814_4817dup (p.Met1606fs) rs760669176
NM_001142771.2(PCDH15):c.4869_4871dup (p.Asn1624dup) rs1554814729
NM_001142771.2(PCDH15):c.4880T>C (p.Val1627Ala) rs755487351
NM_001142771.2(PCDH15):c.4908_4909CA[1] (p.Thr1637fs) rs1320916581
NM_001142771.2(PCDH15):c.4908_4915del (p.Ser1636fs) rs1554814684
NM_001142771.2(PCDH15):c.4918C>T (p.Gln1640Ter) rs1554814683
NM_001142771.2(PCDH15):c.4932_4935dup (p.Ser1646Ter) rs1198732380
NM_001142771.2(PCDH15):c.4986_4988TGA[2] (p.Asp1664del) rs1554814635
NM_001142771.2(PCDH15):c.5041A>T (p.Lys1681Ter) rs1554814611
NM_005709.3(USH1C):c.1284+5351delG rs1554957912
NM_005709.3(USH1C):c.1284+6880delG rs745622612
NM_005709.3(USH1C):c.1284+6881_1284+6882ins14 rs781176348
NM_005709.3(USH1C):c.1285-7433_1285-7432delCA rs766725582
NM_005709.3(USH1C):c.1285-7583delC rs765346539
NM_005709.3(USH1C):c.1590+1delG rs1366154374
NM_005709.4(USH1C):c.1628dup (p.Glu544fs) rs1554953360
NM_022124.5(CDH23):c.9510+16_9510+22delTCAGGCA rs149704197
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys) rs202204597
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.4000C>T (p.Arg1334Trp) rs373276722
NM_022124.6(CDH23):c.4104+4A>T rs483353052
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883
NM_022124.6(CDH23):c.5410C>T (p.Arg1804Trp) rs376271562
NM_022124.6(CDH23):c.5945A>G (p.Asn1982Ser) rs555432123
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536
NM_033056.3(PCDH15):c.*12888_*12890delGAA rs774006219
NM_033056.3(PCDH15):c.*13066delG rs1554815484
NM_033056.4(PCDH15):c.-5_-3AGA[1] (p.Met1del) rs1555135527
NM_033056.4(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164
NM_033056.4(PCDH15):c.1456G>A (p.Gly486Ser) rs1196401374
NM_033056.4(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006
NM_033056.4(PCDH15):c.1900G>A (p.Val634Ile) rs146199636
NM_033056.4(PCDH15):c.1924G>A (p.Asp642Asn) rs1455035148
NM_033056.4(PCDH15):c.2047C>T (p.Arg683Cys) rs573043647
NM_033056.4(PCDH15):c.2102C>T (p.Ala701Val) rs199537178
NM_033056.4(PCDH15):c.2361_2363TGT[2] (p.Val790del) rs483352837
NM_033056.4(PCDH15):c.2581G>A (p.Val861Met) rs142512524
NM_033056.4(PCDH15):c.2717C>T (p.Pro906Leu) rs374205826
NM_033056.4(PCDH15):c.2728G>T (p.Ala910Ser) rs139175351
NM_033056.4(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.4(PCDH15):c.2992C>G (p.Pro998Ala) rs397517454
NM_033056.4(PCDH15):c.3416_3418ATC[1] (p.His1140del) rs1554852410
NM_033056.4(PCDH15):c.3717+2dup rs1248401224
NM_033056.4(PCDH15):c.3807-6T>G rs727504791
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.3862T>C (p.Ser1288Pro) rs1554827269
NM_033056.4(PCDH15):c.3983+2dup rs1554827124
NM_033056.4(PCDH15):c.4006_4008dup (p.Asp1336dup) rs1554824158
NM_033056.4(PCDH15):c.4114_4119del (p.Tyr1372_Thr1373del) rs1394411772
NM_033056.4(PCDH15):c.4118C>T (p.Thr1373Ile) rs756490783
NM_033056.4(PCDH15):c.4127C>A (p.Ala1376Asp) rs752371584
NM_033056.4(PCDH15):c.4147del (p.Ile1383fs) rs1554824058
NM_033056.4(PCDH15):c.4214G>A (p.Arg1405His) rs143538460
NM_033056.4(PCDH15):c.4247_4258del (p.Gln1416_Leu1419del) rs1296979751
NM_033056.4(PCDH15):c.4305_4310dup (p.Pro1442_Pro1443dup) rs1327987212
NM_033056.4(PCDH15):c.4308_4310GCC[2] (p.Pro1441_Pro1443del) rs559130985
NM_033056.4(PCDH15):c.4308_4310GCC[9] (p.Pro1440_Pro1443dup) rs559130985
NM_033056.4(PCDH15):c.4317_4328dup (p.Pro1440_Pro1443dup) rs1554822754
NM_033056.4(PCDH15):c.4368-14TCTTT[3] rs1452730552
NM_033056.4(PCDH15):c.4368-1_4369dup rs1554821139
NM_033056.4(PCDH15):c.4368-3_4379dup rs1554821131
NM_033056.4(PCDH15):c.4383C>A (p.Tyr1461Ter) rs1033803342
NM_033056.4(PCDH15):c.4399_4410dup (p.Arg1467_Asn1470dup) rs1554821093
NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs) rs749884609
NM_033056.4(PCDH15):c.4410_4420del (p.Asn1470fs) rs767621707
NM_033056.4(PCDH15):c.4435_4437CAA[1] (p.Gln1480del) rs1358121247
NM_033056.4(PCDH15):c.4546_4553dup (p.Glu1519fs) rs1554820916
NM_033056.4(PCDH15):c.4548_4551del (p.Ser1517fs) rs1233449433
NM_033056.4(PCDH15):c.4556_4557dup (p.Asp1520fs) rs1554820902
NM_033056.4(PCDH15):c.4561_4565dup (p.Ser1523fs) rs1554820894
NM_033056.4(PCDH15):c.4563_4566dup (p.Ser1523fs) rs1554820891
NM_033056.4(PCDH15):c.4603_4607del (p.Gln1535fs) rs771473483
NM_033056.4(PCDH15):c.4618del (p.Ser1540fs) rs1554820847
NM_033056.4(PCDH15):c.4621_4624dup (p.Ile1542fs) rs1363726588
NM_033056.4(PCDH15):c.4639_4656dup (p.Asp1547_Phe1552dup) rs1554820809
NM_033056.4(PCDH15):c.4705_4708dup (p.Ile1570fs) rs1554820749
NM_033056.4(PCDH15):c.4724_4726dup (p.Gln1576_Ser1577insArg) rs762814533
NM_033056.4(PCDH15):c.4725_4728TCAG[4] (p.Leu1580fs) rs770063261
NM_033056.4(PCDH15):c.4726C>T (p.Gln1576Ter) rs758204385
NM_033056.4(PCDH15):c.4754dup (p.Met1585fs) rs1554820712
NM_033056.4(PCDH15):c.4768_4771dup (p.Arg1591delinsLysTer) rs1554820690
NM_033056.4(PCDH15):c.4769_4771dup (p.Asn1590dup) rs1554820687
NM_033056.4(PCDH15):c.4792C>T (p.Gln1598Ter) rs1554820663
NM_033056.4(PCDH15):c.4812del (p.Arg1604fs) rs1554820651
NM_033056.4(PCDH15):c.4813C>T (p.Gln1605Ter) rs1554820648
NM_033056.4(PCDH15):c.4832del (p.Asn1611fs) rs1554820630
NM_033056.4(PCDH15):c.4834dup (p.Thr1612fs) rs1554820628
NM_033056.4(PCDH15):c.4853_4864dup (p.Lys1618_Ser1621dup) rs1554820580
NM_033056.4(PCDH15):c.4875_4894del (p.Leu1626fs) rs772393186
NM_033056.4(PCDH15):c.4875_4896del (p.Leu1625fs) rs1240582095
NM_033056.4(PCDH15):c.4895_4897dup (p.Leu1633_Thr1634insTyr) rs1554820541
NM_033056.4(PCDH15):c.4905_4907dup (p.Lys1636dup) rs750133663
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4915_4918dup (p.Arg1640fs) rs780945310
NM_033056.4(PCDH15):c.4921C>T (p.Gln1641Ter) rs1484672299
NM_033056.4(PCDH15):c.4925del (p.Gly1642fs) rs1554820498
NM_033056.4(PCDH15):c.4936A>G (p.Met1646Val) rs141103437
NM_033056.4(PCDH15):c.4955_4963dup (p.Ser1655Ter) rs1554820445
NM_033056.4(PCDH15):c.4964_4965CT[3] (p.Ser1657fs) rs1491078644
NM_033056.4(PCDH15):c.4968_4970dup (p.Ser1658dup) rs1554820428
NM_033056.4(PCDH15):c.4973C>A (p.Ser1658Ter) rs902963615
NM_033056.4(PCDH15):c.4983_4986dup (p.Cys1663fs) rs1554820394
NM_033056.4(PCDH15):c.4987dup (p.Cys1663fs) rs775238614
NM_033056.4(PCDH15):c.5003_5007dup (p.Ser1670fs) rs1554820378
NM_033056.4(PCDH15):c.5014_5022dup (p.Ser1672_Leu1674dup) rs1554820353
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5047_5050dup (p.Lys1684fs) rs1554820332
NM_033056.4(PCDH15):c.5061_5067dup (p.Ile1690Ter) rs1554820318
NM_033056.4(PCDH15):c.5109_5129del (p.Arg1704_Ser1710del) rs1554820270
NM_033056.4(PCDH15):c.5134_5135CT[5] (p.Arg1714delinsLeuTer) rs1554820255
NM_033056.4(PCDH15):c.5161_5162del (p.Met1721fs) rs1554820230
NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter) rs1554820212
NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs) rs1554820145
NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del) rs1554820140
NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup) rs756858099
NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del) rs752658191
NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del) rs1554820050
NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del) rs957797299
NM_033056.4(PCDH15):c.5272_5274CCT[1] (p.Pro1759_Pro1760del) rs754779351
NM_033056.4(PCDH15):c.5272_5274CCT[4] (p.Pro1760dup) rs754779351
NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs) rs1554820127
NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup) rs557936064
NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del) rs397517466
NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del) rs1554820073
NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del) rs1415161284
NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs) rs1338600699
NM_033056.4(PCDH15):c.5336del (p.Pro1779fs) rs1554820022
NM_033056.4(PCDH15):c.5343del (p.Ser1782fs) rs1554820009
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs) rs1554819982
NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs) rs1554819970
NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs) rs1376879405
NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs) rs1554819957
NM_033056.4(PCDH15):c.5363_5368TTCCTC[3] (p.1788_1789LP[3]) rs779691085
NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs) rs753690225
NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs) rs1554819925
NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del) rs1554819833
NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del) rs764759018
NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del) rs1554819787
NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del) rs763534924
NM_033056.4(PCDH15):c.5511_5512CA[1] (p.Thr1838fs) rs1554819767
NM_033056.4(PCDH15):c.5520dup (p.Val1841fs) rs1554819761
NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=) rs111033445
NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter) rs371269732
NM_033056.4(PCDH15):c.5600_5603delinsT (p.Thr1867_Thr1868delinsMet) rs1554819686
NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs) rs1554819653
NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs) rs1418472770
NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter) rs750274894
NM_033056.4(PCDH15):c.5628_5629GA[2] (p.Glu1878fs) rs794727570
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter) rs1554819599
NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs) rs1554819570
NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs) rs1554819558
NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter) rs780553426
NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs) rs568470164
NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His) rs145851144
NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del) rs1554819513
NM_033056.4(PCDH15):c.5753del (p.Met1918fs) rs1554819525
NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs) rs755876430
NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs) rs1554819488
NM_033056.4(PCDH15):c.5806del (p.Ser1936fs) rs1554819493
NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup) rs750168790
NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs) rs1368908688
NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs) rs757543551
NM_033056.4(PCDH15):c.5863del (p.Leu1955fs) rs1554819436
NM_033056.4(PCDH15):c.705+2_705+3insTT rs1554903836
NM_033056.4(PCDH15):c.803G>A (p.Cys268Tyr) rs1283739647
NM_033056.4(PCDH15):c.875C>G (p.Pro292Arg) rs138744579
NM_033056.4(PCDH15):c.92-515T>G rs1283842168
NM_153676.3(USH1C):c.1806dup (p.Ile603Hisfs) rs765346539
NM_153676.4(USH1C):c.1013A>C (p.Glu338Ala) rs876658109
NM_153676.4(USH1C):c.1016G>A (p.Arg339Gln) rs765571023
NM_153676.4(USH1C):c.1069C>T (p.Arg357Trp) rs140934960
NM_153676.4(USH1C):c.1210+5G>A rs372285784
NM_153676.4(USH1C):c.1216G>T (p.Gly406Ter) rs1554959148
NM_153676.4(USH1C):c.1290T>G (p.Tyr430Ter) rs1406224812
NM_153676.4(USH1C):c.1292G>T (p.Gly431Val) rs751388655
NM_153676.4(USH1C):c.1351_1356AAAGAG[1] (p.451_452KE[1]) rs1554957867
NM_153676.4(USH1C):c.1363G>T (p.Glu455Ter) rs148115969
NM_153676.4(USH1C):c.1413+2T>C rs1344670523
NM_153676.4(USH1C):c.1414-2_1414-1insCTG rs769675063
NM_153676.4(USH1C):c.1543_1551CCCCCGCCT[3] (p.Pro518_Pro520dup) rs777764626
NM_153676.4(USH1C):c.1556C>T (p.Pro519Leu) rs778703128
NM_153676.4(USH1C):c.1559dup (p.Ser521fs) rs1554957167
NM_153676.4(USH1C):c.1654_1660del (p.Tyr552fs) rs758580540
NM_153676.4(USH1C):c.1712_1716dup (p.Pro573fs) rs1554957020
NM_153676.4(USH1C):c.1739_1744del (p.Pro580_Val581del) rs1175090344
NM_153676.4(USH1C):c.1807dup (p.Ile603fs) rs1554956941
NM_153676.4(USH1C):c.1824del (p.Pro609fs) rs1389725640
NM_153676.4(USH1C):c.1871C>A (p.Ser624Ter) rs778700091
NM_153676.4(USH1C):c.1874C>T (p.Ala625Val) rs727505187
NM_153676.4(USH1C):c.187C>T (p.Arg63Trp) rs375741564
NM_153676.4(USH1C):c.188G>A (p.Arg63Gln) rs372497947
NM_153676.4(USH1C):c.2006_2010del (p.Thr669fs) rs1554956821
NM_153676.4(USH1C):c.2041C>T (p.Arg681Ter) rs369369849
NM_153676.4(USH1C):c.2089G>T (p.Glu697Ter) rs139116036
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874
NM_153676.4(USH1C):c.2192G>A (p.Arg731Gln) rs371626423
NM_153676.4(USH1C):c.2194A>G (p.Lys732Glu) rs148168494
NM_153676.4(USH1C):c.2240A>G (p.Gln747Arg) rs201600193
NM_153676.4(USH1C):c.2341G>A (p.Val781Ile) rs397517875
NM_153676.4(USH1C):c.2418C>A (p.Asn806Lys) rs397517876
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588
NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) rs876658111
NM_153676.4(USH1C):c.2431_2451del (p.Thr811_Glu817del) rs779253356
NM_153676.4(USH1C):c.2441C>A (p.Thr814Asn) rs397517877
NM_153676.4(USH1C):c.2458G>A (p.Ala820Thr) rs397517878
NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) rs769021971
NM_153676.4(USH1C):c.2487C>T (p.Gly829=) rs142801489
NM_153676.4(USH1C):c.2611G>A (p.Ala871Thr) rs56165709
NM_153676.4(USH1C):c.2656-1G>A rs747133793
NM_153676.4(USH1C):c.2661_2663TCT[1] (p.Leu889del) rs1474458620
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539
NM_153676.4(USH1C):c.2681del (p.Gly894fs) rs1554952757
NM_153676.4(USH1C):c.2688_2695dup (p.Arg899fs) rs1554952752
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp) rs1317951509
NM_153676.4(USH1C):c.379G>A (p.Gly127Arg) rs768207716
NM_153676.4(USH1C):c.388-8T>A rs777486804
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_153676.4(USH1C):c.440A>G (p.His147Arg) rs777591673
NM_153676.4(USH1C):c.497-4G>A rs397517881
NM_153676.4(USH1C):c.569C>T (p.Ser190Leu) rs200319849
NM_153676.4(USH1C):c.598G>A (p.Gly200Ser) rs770543827
NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) rs372789934
NM_153676.4(USH1C):c.76C>T (p.Leu26Phe) rs267602805
NM_153676.4(USH1C):c.793G>A (p.Asp265Asn) rs199537187
NM_153676.4(USH1C):c.915_920del (p.Glu306_Ala307del) rs1554960929
NM_173477.5(USH1G):c.644del (p.Lys215fs) rs1567940040

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