ClinVar Miner

List of variants reported as likely benign for Usher syndrome type 1

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
Download table as spreadsheet
HGVS dbSNP
NM_000260.4(MYO7A):c.*392A>G
NM_000260.4(MYO7A):c.*442T>C rs115238711
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000260.4(MYO7A):c.133-14C>T rs116228809
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306
NM_000260.4(MYO7A):c.1506G>A (p.Lys502=) rs181126043
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1868G>A (p.Arg623His) rs111033416
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.1956C>T (p.Cys652=) rs367693437
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2421C>T (p.His807=) rs782218928
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2601C>T (p.Leu867=) rs782554940
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2724C>T (p.Asp908=) rs199979876
NM_000260.4(MYO7A):c.2850G>A (p.Leu950=) rs397516297
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3396C>T (p.Asp1132=) rs543234546
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3660G>A (p.Pro1220=) rs751497005
NM_000260.4(MYO7A):c.3669C>T (p.Tyr1223=) rs727504631
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.444C>T (p.Asn148=) rs1253765162
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.4983C>T (p.Asp1661=) rs111033331
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5466C>T (p.Thr1822=) rs548620787
NM_000260.4(MYO7A):c.5481-14G>A rs113075052
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.5637-173C>T rs207472020
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327
NM_000260.4(MYO7A):c.6345C>T (p.Phe2115=) rs397516329
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.4(MYO7A):c.6520T>C (p.Leu2174=) rs377251326
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_001384140.1(PCDH15):c.4368-2209_4368-2204del rs397517465
NM_001384140.1(PCDH15):c.4368-2768G>A
NM_022124.6(CDH23):c.*361C>A rs115033851
NM_022124.6(CDH23):c.*515C>A rs16929375
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585
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.1263C>T (p.Tyr421=) rs528720730
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) rs371670151
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330
NM_022124.6(CDH23):c.2954-14G>A rs191534381
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser) rs41281310
NM_022124.6(CDH23):c.3352G>A (p.Gly1118Ser) rs562052236
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631
NM_022124.6(CDH23):c.3431-6A>T rs377614198
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) rs377269771
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743
NM_022124.6(CDH23):c.5821-13C>T rs117317626
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) rs368440578
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072
NM_022124.6(CDH23):c.6713-8G>A rs369946986
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) rs750385396
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.7086C>T (p.Tyr2362=) rs1287792582
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008
NM_022124.6(CDH23):c.8980-14C>A rs45522532
NM_022124.6(CDH23):c.9077+7C>T rs76114420
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_033056.4(PCDH15):c.1185T>C (p.Phe395=) rs1427922641
NM_033056.4(PCDH15):c.158-16930T>C rs207470941
NM_033056.4(PCDH15):c.1590+15A>G rs565203752
NM_033056.4(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754
NM_033056.4(PCDH15):c.2325G>A (p.Val775=) rs200792575
NM_033056.4(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.4(PCDH15):c.2619A>G (p.Glu873=) rs150784450
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.4(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.4(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.4(PCDH15):c.3450C>A (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3450C>T (p.Ile1150=) rs146374856
NM_033056.4(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475
NM_033056.4(PCDH15):c.3501+13A>G rs727503365
NM_033056.4(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286
NM_033056.4(PCDH15):c.3724G>A (p.Val1242Met) rs201137087
NM_033056.4(PCDH15):c.3753T>C (p.Ile1251=) rs139873638
NM_033056.4(PCDH15):c.3951C>T (p.Thr1317=) rs144955298
NM_033056.4(PCDH15):c.3983+12T>C rs149867749
NM_033056.4(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.4(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.4(PCDH15):c.4368-76C>T rs375657329
NM_033056.4(PCDH15):c.4368-77G>A rs776152870
NM_033056.4(PCDH15):c.4368-77del rs1554821197
NM_033056.4(PCDH15):c.4368-79_4368-76del rs1554821194
NM_033056.4(PCDH15):c.4542A>G (p.Thr1514=) rs369183721
NM_033056.4(PCDH15):c.4575T>C (p.His1525=) rs746377416
NM_033056.4(PCDH15):c.4749G>A (p.Arg1583=) rs767811568
NM_033056.4(PCDH15):c.475-3C>T rs41304641
NM_033056.4(PCDH15):c.4770T>C (p.Asn1590=) rs372095792
NM_033056.4(PCDH15):c.4772G>A (p.Arg1591Lys) rs149384350
NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=) rs372440971
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463
NM_033056.4(PCDH15):c.5439A>C (p.Pro1813=) rs150303579
NM_033056.4(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555
NM_153676.4(USH1C):c.*131G>C
NM_153676.4(USH1C):c.*405C>G rs11827649
NM_153676.4(USH1C):c.*42C>T rs16934270
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409
NM_153676.4(USH1C):c.1211-1129G>A rs35188020
NM_153676.4(USH1C):c.1211-1175G>A rs143923730
NM_153676.4(USH1C):c.1233C>T (p.Tyr411=) rs377439949
NM_153676.4(USH1C):c.1531-11A>G rs397517872
NM_153676.4(USH1C):c.1548G>A (p.Pro516=) rs780428813
NM_153676.4(USH1C):c.1822C>T (p.Pro608Ser) rs727505247
NM_153676.4(USH1C):c.1840C>T (p.Gln614Ter) rs1554956913
NM_153676.4(USH1C):c.1840del (p.Gln614fs) rs1554956916
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714
NM_153676.4(USH1C):c.2418C>T (p.Asn806=) rs397517876
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703
NM_153676.4(USH1C):c.2547-1G>T rs571304936
NM_153676.4(USH1C):c.2590C>T (p.Arg864Ter) rs767767573
NM_153676.4(USH1C):c.2617G>A (p.Val873Met) rs201533059
NM_153676.4(USH1C):c.2655+12G>A rs727504552
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_153676.4(USH1C):c.582C>T (p.Gly194=) rs397517882
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_153676.4(USH1C):c.819+10G>C rs41282936
NM_173477.5(USH1G):c.*1053G>A rs113583471
NM_173477.5(USH1G):c.*1093= rs690566
NM_173477.5(USH1G):c.*1098T>A
NM_173477.5(USH1G):c.*1224A>C rs111922548
NM_173477.5(USH1G):c.*1303C>T rs1013013
NM_173477.5(USH1G):c.*1656T>C rs8067775
NM_173477.5(USH1G):c.*1821C>G
NM_173477.5(USH1G):c.*553A>C rs111899313
NM_173477.5(USH1G):c.*571T>A rs111611253
NM_173477.5(USH1G):c.*776G>A

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