ClinVar Miner

Variants with conflicting interpretations studied for Retinitis pigmentosa-deafness syndrome

Coded as:
Minimum review status of the submission for Retinitis pigmentosa-deafness syndrome: Y axis collection method of the submission for Retinitis pigmentosa-deafness syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
52 397 1 125 143 0 5 270

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Retinitis pigmentosa-deafness syndrome pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 2 0 99 67
likely benign 2 0 4 1 124
benign 0 0 0 1 0

Condition to condition summary #

Total conditions: 19
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 48 0 120 128 0 0 248
Atypical Gaucher Disease 0 0 0 8 15 0 0 23
Combined saposin deficiency 0 0 0 8 15 0 0 23
Galactosylceramide beta-galactosidase deficiency 0 0 0 8 15 0 0 23
Metachromatic leukodystrophy 0 0 0 8 15 0 0 23
not provided 0 47 1 12 9 0 1 23
Usher syndrome, type 1 0 1 0 2 0 0 2 4
Usher syndrome, type 3B 0 2 0 1 1 0 0 2
CDH23-Related Disorders 0 94 0 0 1 0 0 1
Deafness, autosomal recessive 12 0 1 0 0 0 0 1 1
Deafness, autosomal recessive 12; Usher syndrome, type 2A 0 0 0 0 0 0 1 1
Nonsyndromic Hearing Loss, Recessive 0 553 0 0 1 0 0 1
Nonsyndromic hearing loss and deafness 0 0 0 1 0 0 0 1
Retinitis pigmentosa-deafness syndrome 718 0 0 0 1 0 0 1
Usher syndrome, type 1B 0 0 0 0 0 0 1 1
Usher syndrome, type 1D 0 0 0 0 0 0 1 1
Usher syndrome, type 1F 0 1 0 0 1 0 0 1
Usher syndrome, type 2A 0 0 0 1 0 0 0 1
Usher syndrome, type 3A 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 270
Download table as spreadsheet
HGVS dbSNP
NM_000260.3(MYO7A):c.133-14C>T rs116228809
NM_000260.3(MYO7A):c.133-7C>T rs111033221
NM_000260.3(MYO7A):c.1343+8G>A rs2276278
NM_000260.3(MYO7A):c.1554+7C>T rs150114658
NM_000260.3(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.3(MYO7A):c.1619C>A (p.Pro540His) rs782607566
NM_000260.3(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.3(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.3(MYO7A):c.2282+5G>A rs540145750
NM_000260.3(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.3(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.2754C>T (p.Ala918=) rs78072361
NM_000260.3(MYO7A):c.286-5C>T rs111033471
NM_000260.3(MYO7A):c.288G>A (p.Thr96=) rs56023295
NM_000260.3(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.3(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.3(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.3(MYO7A):c.3750+9G>A rs111033252
NM_000260.3(MYO7A):c.3828G>A (p.Ser1276=) rs78871677
NM_000260.3(MYO7A):c.3858G>A (p.Ala1286=) rs372623270
NM_000260.3(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.3(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.3(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.3(MYO7A):c.4568+12C>G rs72933642
NM_000260.3(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183
NM_000260.3(MYO7A):c.4620G>A (p.Ala1540=) rs41298745
NM_000260.3(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000260.3(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.3(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.3(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.3(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.3(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.3(MYO7A):c.4950C>T (p.Asn1650=) rs80033599
NM_000260.3(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.3(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.3(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.3(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.3(MYO7A):c.5326+13C>T rs114157944
NM_000260.3(MYO7A):c.5481-14G>A rs113075052
NM_000260.3(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.3(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.3(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.3(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.3(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.3(MYO7A):c.593-5C>T rs762666
NM_000260.3(MYO7A):c.6052-11G>C rs112564978
NM_000260.3(MYO7A):c.6063G>A (p.Lys2021=) rs111033209
NM_000260.3(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.3(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.3(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.3(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036
NM_000260.3(MYO7A):c.6519C>T (p.Asn2173=) rs111033230
NM_000260.3(MYO7A):c.6559-11C>T rs34517202
NM_000260.3(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000260.3(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_001142763.1(PCDH15):c.1153G>A (p.Gly385Ser) rs10825269
NM_001142763.1(PCDH15):c.1278T>C (p.Thr426=) rs7921598
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001195794.1(CLRN1):c.6A>C (p.Pro2=) rs111033422
NM_002109.5(HARS):c.1312-8C>T rs772505507
NM_002109.5(HARS):c.1458+7G>A rs58302597
NM_002109.5(HARS):c.588C>T (p.Cys196=) rs2230361
NM_002778.3(PSAP):c.*891G>A rs7869
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_005709.3(USH1C):c.1086-12G>A rs11024318
NM_005709.3(USH1C):c.1086-13G>T rs200490320
NM_005709.3(USH1C):c.114C>T (p.Asp38=) rs137962152
NM_005709.3(USH1C):c.1243G>A (p.Ala415Thr) rs116996553
NM_005709.3(USH1C):c.1261G>A (p.Gly421Ser) rs115931035
NM_005709.3(USH1C):c.1266G>A (p.Thr422=) rs35188020
NM_005709.3(USH1C):c.1326+12C>T rs17703528
NM_005709.3(USH1C):c.1599C>T (p.Ile533=) rs34581703
NM_005709.3(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_005709.3(USH1C):c.403G>A (p.Val135Ile) rs145013633
NM_005709.3(USH1C):c.648G>A (p.Leu216=) rs77137413
NM_005709.3(USH1C):c.651A>G (p.Val217=) rs75977878
NM_005709.3(USH1C):c.819+10G>C rs41282936
NM_005709.3(USH1C):c.921G>A (p.Ala307=) rs778447994
NM_007123.5(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_007123.5(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_007123.5(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_007123.5(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_007123.5(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_007123.5(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_007123.5(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_007123.5(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_007123.5(USH2A):c.485+12T>C rs201857884
NM_007123.5(USH2A):c.486-15C>T rs114194722
NM_012208.3(HARS2):c.7C>G (p.Leu3Val) rs186043734
NM_015404.3(WHRN):c.1075G>A (p.Val359Ile) rs147500559
NM_015404.3(WHRN):c.117G>A (p.Val39=) rs2297815
NM_015404.3(WHRN):c.1318G>A (p.Ala440Thr) rs4978584
NM_015404.3(WHRN):c.1352G>A (p.Gly451Asp) rs117352600
NM_015404.3(WHRN):c.1353T>C (p.Gly451=) rs4979387
NM_015404.3(WHRN):c.1365T>C (p.Ser455=) rs111033459
NM_015404.3(WHRN):c.1515G>A (p.Ala505=) rs34252199
NM_015404.3(WHRN):c.1608C>G (p.Thr536=) rs139337135
NM_015404.3(WHRN):c.1627-12G>A rs2274160
NM_015404.3(WHRN):c.1684C>G (p.Pro562Ala) rs12339210
NM_015404.3(WHRN):c.1838T>C (p.Met613Thr) rs942519
NM_015404.3(WHRN):c.1887G>A (p.Pro629=) rs143443833
NM_015404.3(WHRN):c.191C>A (p.Ala64Asp) rs146655362
NM_015404.3(WHRN):c.1992G>A (p.Pro664=) rs142568702
NM_015404.3(WHRN):c.2046G>C (p.Arg682=) rs35258467
NM_015404.3(WHRN):c.2283C>T (p.Ser761=) rs34963246
NM_015404.3(WHRN):c.2322C>T (p.Ser774=) rs55966714
NM_015404.3(WHRN):c.2348T>C (p.Val783Ala) rs2274159
NM_015404.3(WHRN):c.2388C>A (p.Asn796Lys) rs2274158
NM_015404.3(WHRN):c.2439G>A (p.Thr813=) rs61743618
NM_015404.3(WHRN):c.2586C>A (p.His862Gln) rs117592152
NM_015404.3(WHRN):c.668G>A (p.Arg223His) rs146273185
NM_022124.5(CDH23):c.*104G>C rs377312107
NM_022124.5(CDH23):c.*141G>A rs535544696
NM_022124.5(CDH23):c.*204A>G rs2290022
NM_022124.5(CDH23):c.*349A>G rs1867978
NM_022124.5(CDH23):c.*361C>A rs115033851
NM_022124.5(CDH23):c.*430A>T rs562268606
NM_022124.5(CDH23):c.*434G>A rs529522213
NM_022124.5(CDH23):c.*510G>A rs1054635
NM_022124.5(CDH23):c.*515C>A rs16929375
NM_022124.5(CDH23):c.*588delA rs148667421
NM_022124.5(CDH23):c.*68G>C rs527311705
NM_022124.5(CDH23):c.-15C>A rs760922529
NM_022124.5(CDH23):c.-1C>T rs41281302
NM_022124.5(CDH23):c.-35_-31delAGGCG rs71012280
NM_022124.5(CDH23):c.-35_-31dupAGGCG rs71012280
NM_022124.5(CDH23):c.10026C>T (p.Asp3342=) rs377118941
NM_022124.5(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.5(CDH23):c.1078C>T (p.Leu360=) rs185917383
NM_022124.5(CDH23):c.1134+13A>G rs7903502
NM_022124.5(CDH23):c.1307G>A (p.Ser436Asn) rs111033369
NM_022124.5(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.5(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.5(CDH23):c.1584C>T (p.Arg528=) rs397517309
NM_022124.5(CDH23):c.1595C>T (p.Thr532Met) rs201297042
NM_022124.5(CDH23):c.1665C>T (p.Asn555=) rs397517310
NM_022124.5(CDH23):c.1803C>G (p.Val601=) rs201024982
NM_022124.5(CDH23):c.1814C>T (p.Ala605Val) rs201475055
NM_022124.5(CDH23):c.198G>A (p.Val66=) rs111033288
NM_022124.5(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.5(CDH23):c.2112C>T (p.Tyr704=) rs565266663
NM_022124.5(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.5(CDH23):c.2290-13delT rs397517316
NM_022124.5(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.5(CDH23):c.2337G>A (p.Lys779=) rs111033461
NM_022124.5(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.5(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.5(CDH23):c.2568C>G (p.Ile856Met) rs188498736
NM_022124.5(CDH23):c.2572G>A (p.Val858Ile) rs181275139
NM_022124.5(CDH23):c.2711C>T (p.Pro904Leu) rs199894395
NM_022124.5(CDH23):c.2954-14G>A rs191534381
NM_022124.5(CDH23):c.2970C>T (p.Asp990=) rs56216952
NM_022124.5(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.5(CDH23):c.3186C>A (p.Thr1062=) rs201589645
NM_022124.5(CDH23):c.3249G>A (p.Thr1083=) rs79805606
NM_022124.5(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.5(CDH23):c.3369+12G>A rs187975106
NM_022124.5(CDH23):c.3580-12C>T rs73275848
NM_022124.5(CDH23):c.3580-13C>T rs150894638
NM_022124.5(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.5(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065
NM_022124.5(CDH23):c.4068C>G (p.Thr1356=) rs143136329
NM_022124.5(CDH23):c.4210-7C>T rs79271090
NM_022124.5(CDH23):c.429+13G>A rs3802719
NM_022124.5(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.5(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.5(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.5(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323
NM_022124.5(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.5(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.5(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301
NM_022124.5(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522
NM_022124.5(CDH23):c.5066T>C (p.Met1689Thr) rs397517334
NM_022124.5(CDH23):c.5067+15G>A rs367928867
NM_022124.5(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.5(CDH23):c.5297T>C (p.Phe1766Ser) rs114745089
NM_022124.5(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.5(CDH23):c.5442C>T (p.Ile1814=) rs373768157
NM_022124.5(CDH23):c.5503-10A>G rs2394839
NM_022124.5(CDH23):c.5544C>T (p.Asp1848=) rs142131750
NM_022124.5(CDH23):c.574G>C (p.Glu192Gln) rs199514829
NM_022124.5(CDH23):c.5753G>A (p.Arg1918Gln) rs115113440
NM_022124.5(CDH23):c.5821-13C>T rs117317626
NM_022124.5(CDH23):c.5931T>C (p.Pro1977=) rs373457993
NM_022124.5(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.5(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.5(CDH23):c.6138C>T (p.Ile2046=) rs568741210
NM_022124.5(CDH23):c.6429G>A (p.Thr2143=) rs142788731
NM_022124.5(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271
NM_022124.5(CDH23):c.67+12C>T rs74144963
NM_022124.5(CDH23):c.6705C>T (p.Ile2235=) rs114827737
NM_022124.5(CDH23):c.6713-8G>A rs369946986
NM_022124.5(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.5(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.5(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.5(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.5(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.5(CDH23):c.7722C>T (p.Tyr2574=) rs111033483
NM_022124.5(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.5(CDH23):c.8775C>T (p.Pro2925=) rs766541944
NM_022124.5(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.5(CDH23):c.8980-12C>T rs111583276
NM_022124.5(CDH23):c.9015G>A (p.Ala3005=) rs376497158
NM_022124.5(CDH23):c.9077+8G>A rs11818398
NM_022124.5(CDH23):c.9198+13C>T rs375384238
NM_022124.5(CDH23):c.9291G>T (p.Lys3097Asn) rs368441850
NM_022124.5(CDH23):c.9319+11G>A rs11000013
NM_022124.5(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022124.5(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588
NM_022124.5(CDH23):c.9739-12G>A rs200638595
NM_022124.5(CDH23):c.9799C>T (p.Arg3267Cys) rs201727938
NM_022124.5(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210
NM_022124.5(CDH23):c.9873G>A (p.Thr3291=) rs2290021
NM_022124.5(CDH23):c.9942G>A (p.Thr3314=) rs376804660
NM_033056.3(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502
NM_033056.3(PCDH15):c.1360G>A (p.Val454Ile) rs61735473
NM_033056.3(PCDH15):c.1362C>T (p.Val454=) rs61735479
NM_033056.3(PCDH15):c.157+3A>G rs41274636
NM_033056.3(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389
NM_033056.3(PCDH15):c.243G>A (p.Val81=) rs151119732
NM_033056.3(PCDH15):c.2563C>T (p.Arg855Trp) rs138010738
NM_033056.3(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.3(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720
NM_033056.3(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033056.3(PCDH15):c.2885G>A (p.Arg962His) rs45483395
NM_033056.3(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_033056.3(PCDH15):c.3018G>T (p.Val1006=) rs41307518
NM_033056.3(PCDH15):c.3195A>G (p.Gln1065=) rs776720353
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496
NM_033056.3(PCDH15):c.3983+12T>C rs149867749
NM_033056.3(PCDH15):c.4080G>A (p.Val1360=) rs111033499
NM_033056.3(PCDH15):c.4334C>G (p.Ala1445Gly) rs146745502
NM_033056.3(PCDH15):c.4581C>A (p.Pro1527=) rs10825114
NM_033056.3(PCDH15):c.475-3C>T rs41304641
NM_033056.3(PCDH15):c.4783A>C (p.Ile1595Leu) rs397517461
NM_033056.3(PCDH15):c.4812G>T (p.Arg1604Ser) rs148718874
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033056.3(PCDH15):c.5283T>A (p.Ala1761=) rs375134176
NM_033056.3(PCDH15):c.5286T>A (p.Pro1762=) rs58461416
NM_033056.3(PCDH15):c.5287_5292delGCTCCT (p.Ala1763_Pro1764del) rs397517465
NM_033056.3(PCDH15):c.5353T>C (p.Ser1785Pro) rs144261647
NM_033056.3(PCDH15):c.5359C>T (p.Pro1787Ser) rs61862390
NM_033056.3(PCDH15):c.546A>G (p.Gly182=) rs34164469
NM_033056.3(PCDH15):c.5565C>T (p.Ala1855=) rs111033445
NM_033056.3(PCDH15):c.55T>G (p.Ser19Ala) rs11004439
NM_033056.3(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148
NM_033056.3(PCDH15):c.706-8C>T rs10740579
NM_033056.3(PCDH15):c.960A>G (p.Pro320=) rs41274634
NM_153676.3(USH1C):c.*46T>C rs1055574
NM_153676.3(USH1C):c.1188A>G (p.Pro396=) rs2240487
NM_153676.3(USH1C):c.2340C>T (p.Val780=) rs10832796
NM_153676.3(USH1C):c.2457G>C (p.Glu819Asp) rs1064074
NM_153676.3(USH1C):c.2490+12G>C rs2072232
NM_173477.4(USH1G):c.1152C>T (p.Asp384=) rs569032124
NM_173477.4(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173477.4(USH1G):c.424G>A (p.Glu142Lys) rs111033466
NM_174878.2(CLRN1):c.57A>T (p.Ala19=) rs3796242
NM_174878.2(CLRN1):c.660C>T (p.Asp220=) rs148752352
NM_206933.2(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.2(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.2(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.2(USH2A):c.3812-8T>G rs646094
NM_206933.2(USH2A):c.4252-16_4252-13delCTTT rs372388546
NM_206933.2(USH2A):c.4440C>T (p.Ser1480=) rs111632670

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