ClinVar Miner

Variants with conflicting interpretations studied for Nonsyndromic Hearing Loss, Dominant

Coded as:
Minimum review status of the submission for Nonsyndromic Hearing Loss, Dominant: Y axis collection method of the submission for Nonsyndromic Hearing Loss, Dominant:
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
195 693 1 277 102 0 12 371

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
Nonsyndromic Hearing Loss, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 2 3 0 50 9
likely benign 6 2 44 1 268
benign 2 1 2 9 0

Condition to condition summary #

Total conditions: 27
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 0 142 0 272 69 0 0 338
not provided 0 58 1 34 30 0 4 68
Deafness, autosomal recessive 1A 0 5 0 1 5 0 3 8
Monogenic diabetes 0 2 0 6 1 0 0 7
Nonsyndromic hearing loss and deafness 0 1 0 2 2 0 3 7
Deafness, autosomal dominant 48 0 1 0 0 4 0 0 4
Dilated cardiomyopathy 1J 0 1 0 0 3 0 0 3
Hearing loss 0 0 0 0 2 0 1 3
Usher syndrome, type 1 0 1 0 2 0 0 1 3
Cardiovascular phenotype 0 1 0 1 1 0 0 2
Connective tissue disorder 0 4 0 0 2 0 0 2
Deafness, autosomal dominant 3a 0 1 0 1 0 0 2 2
WFS1-Related Disorders 0 0 0 0 1 0 1 2
Deafness, autosomal dominant 2b 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A; Mutilating keratoderma; Hystrix-like ichthyosis with deafness; Keratitis-ichthyosis-deafness syndrome, autosomal dominant; Keratoderma palmoplantar deafness; Knuckle pads, deafness AND leukonychia syndrome; Deafness, autosomal dominant 3a 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 2; Usher syndrome, type 1 0 6 0 0 0 0 1 1
Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 0 0 0 0 1 0 0 1
Deafness, autosomal recessive 7 0 0 0 0 0 0 1 1
Deafness, digenic, GJB2/GJB3 0 0 0 0 0 0 1 1
Diabetes mellitus AND insipidus with optic atrophy AND deafness 0 0 0 0 1 0 0 1
Diabetes mellitus, noninsulin-dependent, association with 0 0 0 0 0 0 1 1
GJB2-Related Disorders 0 0 0 0 0 0 1 1
Hearing impairment 0 0 0 0 0 0 1 1
MYO7A-Related Disorders 0 0 0 0 0 0 1 1
Nonsyndromic Deafness 0 0 0 0 1 0 0 1
Progressive sensorineural hearing impairment 0 0 0 0 1 0 0 1
Usher syndrome, type 1B 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 371
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.2476G>A (p.Ala826Thr) rs368341987
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.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_001077186.1(MYH14):c.3369-3C>T rs78192108
NM_001135058.1(COCH):c.1477+9C>A rs17097458
NM_001145809.1(MYH14):c.1114+13C>T rs11666328
NM_001145809.1(MYH14):c.1149T>C (p.Phe383=) rs61734424
NM_001145809.1(MYH14):c.1483-10G>A rs73061136
NM_001145809.1(MYH14):c.1755C>T (p.Gly585=) rs61731838
NM_001145809.1(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.1(MYH14):c.2205C>G (p.Arg735=) rs378811
NM_001145809.1(MYH14):c.2792G>A (p.Arg931His) rs200351672
NM_001145809.1(MYH14):c.2827-9A>C rs3745503
NM_001145809.1(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_001145809.1(MYH14):c.3680+9C>T rs76579307
NM_001145809.1(MYH14):c.4741G>A (p.Val1581Ile) rs680446
NM_001145809.1(MYH14):c.474T>C (p.Ile158=) rs34796700
NM_001145809.1(MYH14):c.4753-9C>T rs45591233
NM_001145809.1(MYH14):c.5227C>T (p.Leu1743=) rs147447646
NM_001145809.1(MYH14):c.5281C>A (p.Arg1761=) rs116035034
NM_001145809.1(MYH14):c.5868C>T (p.Ala1956=) rs190695624
NM_001145809.1(MYH14):c.91C>A (p.Pro31Thr) rs590722
NM_001163771.1(COL11A2):c.688G>T (p.Gly230Trp) rs141430703
NM_001256041.1(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661
NM_002473.5(MYH9):c.*8C>T rs201455315
NM_002473.5(MYH9):c.1083C>T (p.Asp361=) rs56001030
NM_002473.5(MYH9):c.1108+9C>T rs145751072
NM_002473.5(MYH9):c.1176G>A (p.Pro392=) rs143316848
NM_002473.5(MYH9):c.136C>T (p.Leu46Phe) rs147122501
NM_002473.5(MYH9):c.1479G>A (p.Gln493=) rs376262583
NM_002473.5(MYH9):c.1626C>T (p.Phe542=) rs7285745
NM_002473.5(MYH9):c.1729-6C>T rs9622375
NM_002473.5(MYH9):c.18C>T (p.Ala6=) rs141055332
NM_002473.5(MYH9):c.2038-5T>C rs8137674
NM_002473.5(MYH9):c.2061C>T (p.Leu687=) rs143801000
NM_002473.5(MYH9):c.2448C>T (p.Cys816=) rs113285582
NM_002473.5(MYH9):c.2517G>A (p.Gln839=) rs34498733
NM_002473.5(MYH9):c.2721C>T (p.Thr907=) rs148112044
NM_002473.5(MYH9):c.2872G>A (p.Ala958Thr) rs151036570
NM_002473.5(MYH9):c.3192C>T (p.Ile1064=) rs144807538
NM_002473.5(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330
NM_002473.5(MYH9):c.3561C>A (p.Ile1187=) rs876657520
NM_002473.5(MYH9):c.3838-12C>T rs113698937
NM_002473.5(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635
NM_002473.5(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387
NM_002473.5(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727
NM_002473.5(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195
NM_002473.5(MYH9):c.4818G>A (p.Ser1606=) rs202132383
NM_002473.5(MYH9):c.4878C>T (p.Ile1626=) rs143947828
NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002473.5(MYH9):c.5483+4C>G rs56327920
NM_002473.5(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099
NM_002473.5(MYH9):c.705+11C>T rs201738304
NM_002473.5(MYH9):c.7C>G (p.Gln3Glu) rs56200894
NM_002700.2(POU4F3):c.792C>T (p.Ser264=) rs149975083
NM_002700.2(POU4F3):c.837G>T (p.Thr279=) rs6885298
NM_002700.2(POU4F3):c.90C>T (p.Ala30=) rs28994879
NM_004004.5(GJB2):c.*1C>T rs111033327
NM_004004.5(GJB2):c.-15C>T rs72561725
NM_004004.5(GJB2):c.-45C>A rs397516868
NM_004004.5(GJB2):c.-6T>A rs148136545
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.5(GJB2):c.120A>C (p.Ala40=) rs561870637
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.241C>G (p.Leu81Val) rs145216882
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.339T>G (p.Ser113Arg) rs80338946
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.5(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188
NM_004086.2(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.2(COCH):c.1269C>T (p.Asp423=) rs35353967
NM_004086.2(COCH):c.1270T>G (p.Tyr424Asp) rs61759484
NM_004086.2(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004086.2(COCH):c.1553A>G (p.Glu518Gly) rs17097468
NM_004086.2(COCH):c.429A>G (p.Pro143=) rs147841606
NM_004086.2(COCH):c.629+5C>T rs202109231
NM_004086.2(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004100.4(EYA4):c.1035G>C (p.Arg345Ser) rs140170914
NM_004100.4(EYA4):c.1739-64G>A rs143208937
NM_004100.4(EYA4):c.580+14_580+16delTCT rs139659489
NM_004100.4(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004100.4(EYA4):c.866C>T (p.Thr289Met) rs41286200
NM_004817.3(TJP2):c.2004G>A (p.Met668Ile) rs34774441
NM_004817.3(TJP2):c.2727G>A (p.Ala909=) rs2095876
NM_004817.3(TJP2):c.3029C>T (p.Ser1010Phe) rs41277907
NM_004817.4(TJP2):c.1091C>T (p.Thr364Met) rs77321498
NM_004817.4(TJP2):c.1137A>G (p.Leu379=) rs17062695
NM_004817.4(TJP2):c.1350C>T (p.Ser450=) rs17062723
NM_004817.4(TJP2):c.1478G>A (p.Arg493Lys) rs41277901
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004817.4(TJP2):c.2040G>A (p.Gly680=) rs111723895
NM_004817.4(TJP2):c.2131T>C (p.Ser711Pro) rs35797487
NM_004817.4(TJP2):c.2137A>G (p.Ser713Gly) rs116545275
NM_004817.4(TJP2):c.2367A>G (p.Ala789=) rs75668442
NM_004817.4(TJP2):c.2646G>A (p.Ala882=) rs11788754
NM_004817.4(TJP2):c.2691C>T (p.Pro897=) rs149969431
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336
NM_004817.4(TJP2):c.2778C>T (p.Asp926=) rs140442228
NM_004817.4(TJP2):c.2810T>C (p.Leu937Pro) rs28556975
NM_004817.4(TJP2):c.2819C>T (p.Pro940Leu) rs199852211
NM_004817.4(TJP2):c.297G>A (p.Ser99=) rs72709079
NM_004817.4(TJP2):c.3407+7G>A rs369322645
NM_004817.4(TJP2):c.342+12G>T rs7027812
NM_004817.4(TJP2):c.3495G>A (p.Glu1165=) rs111595785
NM_004817.4(TJP2):c.382C>A (p.Gln128Lys) rs41305539
NM_004817.4(TJP2):c.887G>A (p.Ser296Asn) rs376434139
NM_004999.3(MYO6):c.*12C>T rs12606
NM_004999.3(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.3(MYO6):c.1030G>A (p.Val344Ile) rs199798449
NM_004999.3(MYO6):c.1078+19dupT rs144408691
NM_004999.3(MYO6):c.1120T>C (p.Tyr374His) rs61732664
NM_004999.3(MYO6):c.1144G>A (p.Asp382Asn) rs111530469
NM_004999.3(MYO6):c.1176A>G (p.Thr392=) rs2273857
NM_004999.3(MYO6):c.1546+7_1546+8delGT rs3831003
NM_004999.3(MYO6):c.1656G>A (p.Lys552=) rs111033431
NM_004999.3(MYO6):c.1674+13A>G rs6925845
NM_004999.3(MYO6):c.1722C>T (p.Asp574=) rs11756446
NM_004999.3(MYO6):c.188-3T>C rs373199401
NM_004999.3(MYO6):c.2517T>C (p.Gly839=) rs112597191
NM_004999.3(MYO6):c.3246T>C (p.Tyr1082=) rs138437852
NM_004999.3(MYO6):c.3303C>T (p.Cys1101=) rs9443199
NM_004999.3(MYO6):c.3333G>A (p.Val1111=) rs114970874
NM_004999.3(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323
NM_004999.3(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956
NM_004999.3(MYO6):c.441C>T (p.Ile147=) rs565770950
NM_004999.3(MYO6):c.553+11T>C rs12210963
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590
NM_005379.3(MYO1A):c.1185T>C (p.Phe395=) rs17546153
NM_005379.3(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043
NM_005379.3(MYO1A):c.1517G>C (p.Cys506Ser) rs12297756
NM_005379.3(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.3(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952
NM_005379.3(MYO1A):c.2032A>T (p.Ile678Phe) rs151269703
NM_005379.3(MYO1A):c.2141G>A (p.Arg714His) rs369452147
NM_005379.3(MYO1A):c.2238C>G (p.Ser746=) rs140932379
NM_005379.3(MYO1A):c.2302C>T (p.Arg768Trp) rs143613424
NM_005379.3(MYO1A):c.2406C>T (p.Asp802=) rs150587673
NM_005379.3(MYO1A):c.2684T>C (p.Met895Thr) rs148582008
NM_005379.3(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.3(MYO1A):c.2919C>T (p.Ser973=) rs79857347
NM_005379.3(MYO1A):c.2920G>A (p.Glu974Lys) rs370708976
NM_005379.3(MYO1A):c.2987C>T (p.Thr996Ile) rs17119344
NM_005379.3(MYO1A):c.3026A>C (p.Glu1009Ala) rs76394585
NM_005379.3(MYO1A):c.522C>T (p.Leu174=) rs561295735
NM_005379.3(MYO1A):c.916G>A (p.Val306Met) rs55679042
NM_005422.2(TECTA):c.-13T>C rs145916279
NM_005422.2(TECTA):c.1436C>T (p.Pro479Leu) rs35107075
NM_005422.2(TECTA):c.1461A>G (p.Gly487=) rs202127508
NM_005422.2(TECTA):c.1509C>T (p.Cys503=) rs61733565
NM_005422.2(TECTA):c.2061C>G (p.Asn687Lys) rs139165033
NM_005422.2(TECTA):c.2256C>T (p.Ile752=) rs10502247
NM_005422.2(TECTA):c.2781T>C (p.His927=) rs142903119
NM_005422.2(TECTA):c.2795T>C (p.Val932Ala) rs520805
NM_005422.2(TECTA):c.3012C>G (p.Thr1004=) rs61291716
NM_005422.2(TECTA):c.3492C>T (p.Thr1164=) rs144012985
NM_005422.2(TECTA):c.3511G>A (p.Val1171Met) rs186780639
NM_005422.2(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950
NM_005422.2(TECTA):c.4098G>A (p.Thr1366=) rs12275038
NM_005422.2(TECTA):c.4105+13C>T rs7130952
NM_005422.2(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158
NM_005422.2(TECTA):c.4422C>T (p.Asn1474=) rs33981325
NM_005422.2(TECTA):c.4533C>T (p.Phe1511=) rs77628498
NM_005422.2(TECTA):c.4611C>T (p.Pro1537=) rs138477419
NM_005422.2(TECTA):c.4720A>G (p.Ile1574Val) rs147354818
NM_005422.2(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131
NM_005422.2(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530
NM_005422.2(TECTA):c.5383+3G>A rs73583199
NM_005422.2(TECTA):c.5634C>T (p.Ser1878=) rs2155369
NM_005422.2(TECTA):c.56A>G (p.Gln19Arg) rs35507522
NM_005422.2(TECTA):c.5733T>G (p.Val1911=) rs516678
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.624+11C>G rs73599492
NM_005422.2(TECTA):c.6250+4T>C rs143302176
NM_005422.2(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920
NM_005422.2(TECTA):c.6458C>T (p.Thr2153Met) rs146965680
NM_005422.2(TECTA):c.701A>G (p.Gln234Arg) rs144682235
NM_005422.2(TECTA):c.790+12C>T rs138644808
NM_005422.2(TECTA):c.915C>T (p.Cys305=) rs367974065
NM_005422.2(TECTA):c.972G>C (p.Val324=) rs147790742
NM_005982.3(SIX1):c.162G>A (p.Ala54=) rs150550985
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440
NM_006005.3(WFS1):c.1290G>A (p.Ser430=) rs752100338
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln) rs121912618
NM_006005.3(WFS1):c.2580C>T (p.His860=) rs754802246
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446
NM_006005.3(WFS1):c.461-9A>G rs10010131
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363
NM_006783.4(GJB6):c.405G>A (p.Thr135=) rs145438428
NM_024009.2(GJB3):c.223C>T (p.Arg75Cys) rs370476720
NM_024009.2(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024009.2(GJB3):c.529T>G (p.Tyr177Asp) rs80297119
NM_024009.2(GJB3):c.547G>A (p.Glu183Lys) rs74315318
NM_024009.2(GJB3):c.579C>T (p.Gly193=) rs61744512
NM_024009.2(GJB3):c.580G>A (p.Ala194Thr) rs117385606
NM_024009.2(GJB3):c.94C>T (p.Arg32Trp) rs1805063
NM_024729.3(MYH14):c.1000C>G (p.Pro334Ala) rs34498817
NM_024729.3(MYH14):c.1002G>A (p.Pro334=) rs368124508
NM_024729.3(MYH14):c.1181A>G (p.Asn394Ser) rs537153044
NM_024729.3(MYH14):c.1866C>T (p.Val622=) rs77895476
NM_024729.3(MYH14):c.2211C>A (p.Leu737=) rs190941610
NM_024729.3(MYH14):c.2236G>A (p.Glu746Lys) rs397516628
NM_024729.3(MYH14):c.2309C>T (p.Ala770Val) rs201337011
NM_024729.3(MYH14):c.2477G>A (p.Arg826His) rs547836952
NM_024729.3(MYH14):c.2718C>T (p.Arg906=) rs138987081
NM_024729.3(MYH14):c.2956C>T (p.Leu986=) rs113152264
NM_024729.3(MYH14):c.3540C>T (p.Asn1180=) rs78573213
NM_024729.3(MYH14):c.3626C>A (p.Ala1209Glu) rs11669191
NM_024729.3(MYH14):c.3655G>A (p.Gly1219Ser) rs200272339
NM_024729.3(MYH14):c.3748G>T (p.Val1250Leu) rs202242879
NM_024729.3(MYH14):c.3971G>A (p.Ser1324Asn) rs202225655
NM_024729.3(MYH14):c.4416+10C>T rs561531825
NM_024729.3(MYH14):c.4473C>T (p.Ala1491=) rs35453633
NM_024729.3(MYH14):c.4630-5A>G rs118097099
NM_024729.3(MYH14):c.483G>A (p.Met161Ile) rs34773557
NM_024729.3(MYH14):c.5211T>C (p.Gly1737=) rs115844649
NM_024729.3(MYH14):c.5343G>A (p.Leu1781=) rs10419343
NM_024729.3(MYH14):c.5406C>T (p.Ser1802=) rs12610591
NM_024729.3(MYH14):c.5889A>T (p.Leu1963=) rs73932457
NM_080680.2(COL11A2):c.*4C>T rs186720023
NM_080680.2(COL11A2):c.1098G>A (p.Ala366=) rs73741539
NM_080680.2(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.1666-5_1666-3delCCT rs147815324
NM_080680.2(COL11A2):c.1782C>T (p.Asp594=) rs41266697
NM_080680.2(COL11A2):c.2182A>T (p.Ile728Phe) rs188490457
NM_080680.2(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.230C>A (p.Pro77Gln) rs35765893
NM_080680.2(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.2(COL11A2):c.2520G>A (p.Arg840=) rs117237998
NM_080680.2(COL11A2):c.2757C>T (p.Gly919=) rs34478777
NM_080680.2(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333
NM_080680.2(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.2(COL11A2):c.3583-5T>C rs183536190
NM_080680.2(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872
NM_080680.2(COL11A2):c.3616C>T (p.Leu1206=) rs147576338
NM_080680.2(COL11A2):c.3654A>G (p.Ser1218=) rs146962984
NM_080680.2(COL11A2):c.3699C>T (p.Arg1233=) rs151098305
NM_080680.2(COL11A2):c.3725C>T (p.Ser1242Leu) rs534570825
NM_080680.2(COL11A2):c.4041G>A (p.Pro1347=) rs139283268
NM_080680.2(COL11A2):c.4265C>T (p.Pro1422Leu) rs555936333
NM_080680.2(COL11A2):c.4383C>T (p.Pro1461=) rs148262058
NM_080680.2(COL11A2):c.4392+12C>T rs117267045
NM_080680.2(COL11A2):c.4458T>A (p.Gly1486=) rs143186319
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.4651C>T (p.Arg1551Trp) rs141254777
NM_080680.2(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609
NM_080680.2(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912
NM_080680.2(COL11A2):c.4884G>C (p.Glu1628Asp) rs2229790
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.5071-5T>G rs368309085
NM_080680.2(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792
NM_080680.2(COL11A2):c.752A>T (p.Gln251Leu) rs201399429
NM_138691.2(TMC1):c.1457T>C (p.Met486Thr) rs17058153
NM_138691.2(TMC1):c.1713C>T (p.Phe571=) rs34532421
NM_138691.2(TMC1):c.1763+3A>G rs370898981
NM_138691.2(TMC1):c.241G>A (p.Glu81Lys) rs1796993
NM_138691.2(TMC1):c.247_249delGAA (p.Glu83del) rs376040866
NM_138691.2(TMC1):c.421C>T (p.Arg141Trp) rs11143384
NM_138691.2(TMC1):c.795A>C (p.Thr265=) rs140398130
NM_139319.2(SLC17A8):c.171G>A (p.Thr57=) rs11110359
NM_139319.2(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843
NM_139319.2(SLC17A8):c.336T>C (p.Asp112=) rs11568546
NM_139319.2(SLC17A8):c.355-4C>A rs11568531
NM_139319.2(SLC17A8):c.54G>A (p.Lys18=) rs11568528
NM_139319.2(SLC17A8):c.711G>A (p.Leu237=) rs11568542
NM_172105.3(EYA4):c.1107+10C>G rs752586864
NM_172105.3(EYA4):c.888G>A (p.Ser296=) rs768010410

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