ClinVar Miner

List of variants reported as likely benign for Usher syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_002778.4(PSAP):c.*891G>A rs7869 0.34207
NM_173477.5(USH1G):c.*1303C>T rs1013013 0.20471
NM_173477.5(USH1G):c.*1093= rs690566 0.19308
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_173477.5(USH1G):c.*1656T>C rs8067775 0.06899
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_173477.5(USH1G):c.*571T>A rs111611253 0.04134
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_173477.5(USH1G):c.*1990A>G rs113905467 0.03761
NM_173477.5(USH1G):c.*553A>C rs111899313 0.02634
NM_173477.5(USH1G):c.*1224A>C rs111922548 0.02392
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr) rs41311343 0.02332
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390 0.01583
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=) rs41303346 0.01390
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr) rs111033530 0.01127
NM_153676.4(USH1C):c.819+10G>C rs41282936 0.01105
NM_000260.3(MYO7A):c.*560C>T rs35776264 0.01078
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=) rs75480336 0.00991
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile) rs147835286 0.00845
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_153676.4(USH1C):c.2499C>T (p.Ile833=) rs34581703 0.00789
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val) rs77821631 0.00732
NM_173477.5(USH1G):c.*1053G>A rs113583471 0.00727
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_000260.4(MYO7A):c.*392A>G rs144527614 0.00712
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=) rs79805606 0.00698
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_022124.6(CDH23):c.2337G>A (p.Lys779=) rs111033461 0.00664
NM_153676.4(USH1C):c.*405C>G rs11827649 0.00654
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr) rs61730754 0.00615
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys) rs76593842 0.00578
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_005709.4(USH1C):c.1266G>A (p.Thr422=) rs35188020 0.00558
NM_015404.4(WHRN):c.2046G>C (p.Arg682=) rs35258467 0.00555
NM_015404.4(WHRN):c.2439G>A (p.Thr813=) rs61743618 0.00545
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=) rs61740119 0.00542
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=) rs201733315 0.00539
NM_153676.4(USH1C):c.101A>G (p.His34Arg) rs75157409 0.00524
NM_153676.4(USH1C):c.*42C>T rs16934270 0.00520
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_022124.6(CDH23):c.3999G>A (p.Val1333=) rs111033453 0.00516
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089 0.00511
NM_032119.4(ADGRV1):c.-67A>T rs150816712 0.00511
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=) rs76463072 0.00494
NM_174878.3(CLRN1):c.*1027T>G rs147434424 0.00493
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=) rs112097891 0.00486
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_000260.3(MYO7A):c.*546C>T rs115812166 0.00459
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_001384140.1(PCDH15):c.1590+15A>G rs565203752 0.00428
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_022124.6(CDH23):c.*361C>A rs115033851 0.00420
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=) rs149459739 0.00414
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_174878.3(CLRN1):c.*1191T>C rs113817098 0.00396
NM_022124.6(CDH23):c.*515C>A rs16929375 0.00385
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln) rs73181648 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_173477.5(USH1G):c.*1098T>A rs116670727 0.00377
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_022124.6(CDH23):c.2954-14G>A rs191534381 0.00347
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln) rs149390094 0.00330
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_173477.5(USH1G):c.*776G>A rs55847044 0.00248
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=) rs143136329 0.00226
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu) rs79464236 0.00178
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=) rs41307518 0.00149
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=) rs80069610 0.00133
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_015404.4(WHRN):c.668G>A (p.Arg223His) rs146273185 0.00122
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_032119.4(ADGRV1):c.18803-13A>G rs41305902 0.00083
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser) rs200111522 0.00075
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874 0.00066
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502 0.00061
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_173477.5(USH1G):c.*1821C>G rs74943260 0.00056
NM_022124.6(CDH23):c.5821-13C>T rs117317626 0.00054
NM_022124.6(CDH23):c.9077+7C>T rs76114420 0.00053
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_032119.4(ADGRV1):c.2241-10A>T rs150996234 0.00047
NM_153676.4(USH1C):c.648G>A (p.Leu216=) rs77137413 0.00046
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504 0.00037
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=) rs75019370 0.00036
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu) rs145903555 0.00020
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile) rs111033519 0.00010
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_174878.3(CLRN1):c.*1330T>C rs374292166 0.00007
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_015404.4(WHRN):c.933A>C (p.Pro311=) rs569159249 0.00004
NM_000260.4(MYO7A):c.397C>A (p.His133Asn) rs111033403 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_015404.4(WHRN):c.*37C>G rs549195233 0.00001
NM_015404.4(WHRN):c.*51C>T rs529176890 0.00001
NM_032119.4(ADGRV1):c.13654-5C>T rs367554300 0.00001
NM_153676.4(USH1C):c.*131G>C rs550402400 0.00001
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.4568+12C>G rs72933642
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
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.93C>T (p.Cys31=) rs35689081
NM_015404.4(WHRN):c.-608_-601del rs150944893
NM_022124.6(CDH23):c.-45AGGCG[2] rs71012280
NM_022124.6(CDH23):c.-45AGGCG[4] rs71012280
NM_022124.6(CDH23):c.1089C>T (p.Val363=) rs556135873
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=) rs41311745
NM_032119.4(ADGRV1):c.18803-4G>T rs80335659
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_173477.5(USH1G):c.*1168TG[6] rs746904393
NM_174878.3(CLRN1):c.*277G>A rs200685524
NM_206933.4(USH2A):c.4252-36CTTT[5] rs372388546

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