ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss by Illumina Laboratory Services, Illumina

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 406
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HGVS dbSNP gnomAD frequency
NM_004100.5(EYA4):c.*1264T>A rs9483585 0.99999
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_002473.6(MYH9):c.3429T>G (p.Ala1143=) rs710181 0.97278
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_001145809.2(MYH14):c.3033+11T>C rs930086 0.86981
NM_001145809.2(MYH14):c.*216T>G rs627491 0.86114
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_006005.3(WFS1):c.997G>A (p.Val333Ile) rs1801212 0.80149
NM_004100.5(EYA4):c.*1434A>G rs9483586 0.79868
NM_001145809.2(MYH14):c.5678+12C>T rs3826772 0.78229
NM_002473.6(MYH9):c.1728+10G>A rs2413396 0.77118
NM_006005.3(WFS1):c.*91C>T rs1046319 0.76546
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_001145809.2(MYH14):c.2250A>G (p.Pro750=) rs1651553 0.74436
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_004999.4(MYO6):c.*4114T>A rs7766661 0.72931
NM_006005.3(WFS1):c.*47T>C rs1046317 0.71708
NM_006005.3(WFS1):c.2565A>G (p.Ser855=) rs1046316 0.70506
NM_006005.3(WFS1):c.684C>G (p.Arg228=) rs1801213 0.68223
NM_001145809.2(MYH14):c.5430G>A (p.Ser1810=) rs3745509 0.63924
NM_006005.3(WFS1):c.1500C>T (p.Asn500=) rs1801214 0.63787
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_006005.3(WFS1):c.461-15C>T rs9998519 0.62200
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314 0.57941
NM_006005.3(WFS1):c.*683C>T rs3200 0.57543
NM_001145809.2(MYH14):c.657G>A (p.Ala219=) rs4801822 0.56915
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_006005.3(WFS1):c.1185C>T (p.Val395=) rs1801206 0.56648
NM_001127453.2(GSDME):c.447A>G (p.Glu149=) rs876305 0.56409
NM_138691.3(TMC1):c.-219A>G rs7026304 0.55869
NM_006005.3(WFS1):c.*149G>A rs1046320 0.54693
NM_006005.3(WFS1):c.*604G>C rs9457 0.53926
NM_001145809.2(MYH14):c.3018G>A (p.Leu1006=) rs3745504 0.53291
NM_002473.6(MYH9):c.1554+7A>G rs3752462 0.53193
NM_138691.3(TMC1):c.-468G>A rs7022441 0.53167
NM_004999.4(MYO6):c.*3835C>T rs7742137 0.51984
NM_138691.3(TMC1):c.45C>T (p.Asp15=) rs2589615 0.51851
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser) rs1045644 0.51720
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_001145809.2(MYH14):c.2355-14C>T rs12981413 0.46235
NM_139319.3(SLC17A8):c.*39A>C rs11568537 0.45975
NM_006005.3(WFS1):c.1832G>A (p.Arg611His) rs734312 0.43085
NM_004999.4(MYO6):c.*2027T>C rs6914716 0.39546
NM_001145809.2(MYH14):c.2205C>G (p.Arg735=) rs378811 0.38312
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_004100.5(EYA4):c.*23C>T rs3734279 0.35809
NM_004999.4(MYO6):c.*3940T>C rs11964034 0.33693
NM_004999.4(MYO6):c.*350T>C rs699186 0.33478
NM_001145809.2(MYH14):c.*122A>C rs12978083 0.33223
NM_002473.6(MYH9):c.*596G>A rs136200 0.32779
NM_001145809.2(MYH14):c.1114+13C>T rs11666328 0.32285
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_002473.6(MYH9):c.*261G>C rs11089787 0.25506
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_004086.3(COCH):c.*27A>T rs13122 0.24742
NM_004100.5(EYA4):c.*2108A>G rs17053541 0.24433
NM_002473.6(MYH9):c.*800T>C rs7078 0.23633
NM_004999.4(MYO6):c.*12C>T rs12606 0.22544
NM_002473.6(MYH9):c.*238G>T rs11703176 0.22062
NM_138691.3(TMC1):c.241G>A (p.Glu81Lys) rs1796993 0.21988
NM_001145809.2(MYH14):c.3680+9C>T rs76579307 0.20534
NM_004100.5(EYA4):c.*2184A>T rs17053542 0.20492
NM_004100.5(EYA4):c.*726C>A rs55805978 0.20466
NM_004999.4(MYO6):c.*3447A>C rs1341567 0.19296
NM_001127453.2(GSDME):c.405-15G>A rs754553 0.18061
NM_139319.3(SLC17A8):c.-218T>C rs10860582 0.18033
NM_005219.5(DIAPH1):c.*1041G>A rs6892185 0.17917
NM_002473.6(MYH9):c.4876A>G (p.Ile1626Val) rs2269529 0.17342
NM_001127453.2(GSDME):c.489G>A (p.Thr163=) rs754555 0.17320
NM_002473.6(MYH9):c.4872G>T (p.Ala1624=) rs2269530 0.17309
NM_002473.6(MYH9):c.*732C>T rs12107 0.16843
NM_001127453.2(GSDME):c.1200A>G (p.Ala400=) rs17149912 0.16349
NM_004100.5(EYA4):c.*1867C>T rs17053540 0.15248
NM_002473.6(MYH9):c.*1314C>T rs2481 0.15103
NM_001145809.2(MYH14):c.91C>A (p.Pro31Thr) rs590722 0.14959
NM_001145809.2(MYH14):c.2827-9A>C rs3745503 0.14515
NM_138691.3(TMC1):c.-329C>A rs7856724 0.13978
NM_004999.4(MYO6):c.553+11T>C rs12210963 0.13246
NM_005219.5(DIAPH1):c.*933T>A rs55798800 0.13233
NM_004999.4(MYO6):c.*459A>G rs1045758 0.13207
NM_001127453.2(GSDME):c.*481G>C rs12979 0.12626
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_006005.3(WFS1):c.*253G>A rs1046322 0.09607
NM_001145809.2(MYH14):c.1483-10G>A rs73061136 0.09105
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_006005.3(WFS1):c.*274A>G rs1046325 0.08190
NM_006005.3(WFS1):c.*90G>A rs1802453 0.08126
NM_001127453.2(GSDME):c.619G>A (p.Val207Met) rs12540919 0.07873
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_001145809.2(MYH14):c.1755C>T (p.Gly585=) rs61731838 0.07411
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_001127453.2(GSDME):c.*527C>T rs6957782 0.07350
NM_002473.6(MYH9):c.4899G>A (p.Arg1633=) rs5756130 0.07263
NM_001127453.2(GSDME):c.*273C>T rs17149888 0.07118
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721 0.06809
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_001145809.2(MYH14):c.1149T>C (p.Phe383=) rs61734424 0.06194
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_004100.5(EYA4):c.*3014T>C rs76510133 0.05509
NM_006005.3(WFS1):c.*241T>C rs60985011 0.05284
NM_139319.3(SLC17A8):c.*71T>C rs75599713 0.05167
NM_004086.3(COCH):c.1477+9C>A rs17097458 0.05034
NM_006005.3(WFS1):c.1023C>T (p.Phe341=) rs56072215 0.04932
NM_002473.6(MYH9):c.2256T>C (p.Asn752=) rs9619601 0.04672
NC_000013.11:g.20187454C>T rs11839674 0.04460
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_004100.5(EYA4):c.*1658C>T rs73546865 0.04226
NM_004100.5(EYA4):c.-76C>T rs78081370 0.04026
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_004999.4(MYO6):c.*1703C>T rs9360957 0.03977
NM_001127453.2(GSDME):c.863-6T>C rs55735863 0.03926
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_001127453.2(GSDME):c.*30C>T rs17274530 0.03910
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
NM_005219.5(DIAPH1):c.*1347C>G rs251020 0.03434
NM_002473.6(MYH9):c.3345A>G (p.Glu1115=) rs875725 0.03292
NM_001145809.2(MYH14):c.1890C>T (p.Val630=) rs77895476 0.03277
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_002700.3(POU4F3):c.90C>T (p.Ala30=) rs28994879 0.02948
NM_002473.6(MYH9):c.4563C>T (p.His1521=) rs11549907 0.02903
NM_002473.6(MYH9):c.3100+11G>C rs41279999 0.02869
NM_002473.6(MYH9):c.*312C>T rs16996639 0.02830
NM_001145809.2(MYH14):c.474T>C (p.Ile158=) rs34796700 0.02809
NM_001145809.2(MYH14):c.5281C>A (p.Arg1761=) rs116035034 0.02785
NM_002473.6(MYH9):c.*137C>A rs114268057 0.02699
NM_002473.6(MYH9):c.*136C>A rs115869378 0.02697
NM_006005.3(WFS1):c.*567C>G rs12508118 0.02697
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_001127453.2(GSDME):c.*87A>G rs10266655 0.02589
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_004100.5(EYA4):c.*2302G>A rs41286208 0.02535
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_138691.3(TMC1):c.*183A>G rs71507808 0.02514
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_001145809.2(MYH14):c.4753-9C>T rs45591233 0.02396
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_002473.6(MYH9):c.3838-8C>T rs145429636 0.02315
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=) rs9443199 0.02151
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_004086.3(COCH):c.*407C>T rs7152503 0.02116
NM_139319.3(SLC17A8):c.*817A>T rs56156523 0.02065
NM_006005.3(WFS1):c.*333C>A rs111800114 0.02051
NM_002700.3(POU4F3):c.837G>T (p.Thr279=) rs6885298 0.01958
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_001145809.2(MYH14):c.3749C>A (p.Ala1250Glu) rs11669191 0.01884
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_004999.4(MYO6):c.-49C>G rs149130280 0.01849
NM_004999.4(MYO6):c.*1962A>G rs80199115 0.01750
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893 0.01749
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_139319.3(SLC17A8):c.711G>A (p.Leu237=) rs11568542 0.01720
NM_001127453.2(GSDME):c.1199C>T (p.Ala400Val) rs71535705 0.01715
NM_006005.3(WFS1):c.*637T>C rs71528901 0.01713
NM_006005.3(WFS1):c.*54A>G rs71526455 0.01704
NM_006005.3(WFS1):c.*512C>T rs71528900 0.01701
NM_004999.4(MYO6):c.*3546A>G rs73751758 0.01688
NM_006005.3(WFS1):c.2019C>T (p.Cys673=) rs71524375 0.01683
NM_001145809.2(MYH14):c.1024C>G (p.Pro342Ala) rs34498817 0.01645
NM_004100.5(EYA4):c.*2685T>A rs41286210 0.01638
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_002473.6(MYH9):c.3838-12C>T rs113698937 0.01529
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363 0.01435
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_001127453.2(GSDME):c.*448T>C rs144061292 0.01358
NM_004999.4(MYO6):c.*1469G>T rs74367845 0.01285
NM_004999.4(MYO6):c.*2547G>A rs148652044 0.01269
NM_001145809.2(MYH14):c.4596C>T (p.Ala1532=) rs35453633 0.01258
NM_001145809.2(MYH14):c.6012A>T (p.Leu2004=) rs73932457 0.01253
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_006005.3(WFS1):c.*131C>T rs55993016 0.01227
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=) rs111033230 0.01207
NM_005219.5(DIAPH1):c.*618G>C rs144081334 0.01207
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_005219.5(DIAPH1):c.*1304A>G rs112580910 0.01163
NM_005219.5(DIAPH1):c.*1364T>C rs116342492 0.01140
NM_138691.3(TMC1):c.*106G>C rs79830675 0.01140
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_004999.4(MYO6):c.*3632T>G rs9443200 0.01093
NM_001145809.2(MYH14):c.4741G>A (p.Val1581Ile) rs680446 0.01091
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_006005.3(WFS1):c.1800C>T (p.Thr600=) rs71524362 0.01070
NM_001145809.2(MYH14):c.2841C>T (p.Arg947=) rs138987081 0.01050
NM_001145809.2(MYH14):c.5466G>A (p.Leu1822=) rs10419343 0.01020
NM_002473.6(MYH9):c.1626C>T (p.Phe542=) rs7285745 0.01011
NM_139319.3(SLC17A8):c.54G>A (p.Lys18=) rs11568528 0.00987
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_002473.6(MYH9):c.*243C>T rs136201 0.00965
NM_000260.4(MYO7A):c.*442T>C rs115238711 0.00963
NM_002473.6(MYH9):c.1108+9C>T rs145751072 0.00959
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_001145809.2(MYH14):c.5334T>C (p.Gly1778=) rs115844649 0.00878
NM_002473.6(MYH9):c.2038-5T>C rs8137674 0.00874
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_004999.4(MYO6):c.*4464C>T rs79815348 0.00798
NM_004999.4(MYO6):c.3667G>A (p.Asp1223Asn) rs41269323 0.00784
NM_004999.4(MYO6):c.*3509G>A rs78129547 0.00783
NM_001145809.2(MYH14):c.3663C>T (p.Asn1221=) rs78573213 0.00779
NM_138691.3(TMC1):c.*28A>C rs151157872 0.00779
NM_006005.3(WFS1):c.1308C>T (p.Thr436=) rs71539646 0.00773
NM_138691.3(TMC1):c.-275G>A rs58824091 0.00773
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_004999.4(MYO6):c.*2910T>A rs140495245 0.00749
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362 0.00745
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_002473.6(MYH9):c.1729-6C>T rs9622375 0.00736
NM_004100.5(EYA4):c.*1484C>T rs116238383 0.00723
NM_000260.4(MYO7A):c.133-14C>T rs116228809 0.00719
NM_001145809.2(MYH14):c.5868C>T (p.Ala1956=) rs190695624 0.00710
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_138691.3(TMC1):c.421C>T (p.Arg141Trp) rs11143384 0.00691
NM_004086.3(COCH):c.1269C>T (p.Asp423=) rs35353967 0.00689
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_139319.3(SLC17A8):c.355-4C>A rs11568531 0.00670
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_005219.5(DIAPH1):c.*1597G>A rs76801798 0.00643
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507 0.00617
NM_004086.3(COCH):c.1553A>G (p.Glu518Gly) rs17097468 0.00602
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624 0.00513
NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile) rs45610843 0.00512
NM_002700.3(POU4F3):c.663C>A (p.Gly221=) rs61737151 0.00511
NM_002473.6(MYH9):c.5815G>A (p.Ala1939Thr) rs115031369 0.00508
NM_004999.4(MYO6):c.3333G>A (p.Val1111=) rs114970874 0.00506
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004100.5(EYA4):c.-445C>T rs112196731 0.00488
NM_004999.4(MYO6):c.2982G>A (p.Glu994=) rs55905349 0.00487
NM_004999.4(MYO6):c.1656G>A (p.Lys552=) rs111033431 0.00479
NM_006005.3(WFS1):c.*242G>C rs80055761 0.00471
NM_004999.4(MYO6):c.3246T>C (p.Tyr1082=) rs138437852 0.00470
NM_006005.3(WFS1):c.-6+11C>T rs547998667 0.00469
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_139319.3(SLC17A8):c.171G>A (p.Thr57=) rs11110359 0.00452
NM_004999.4(MYO6):c.1674+13A>G rs6925845 0.00447
NM_002473.6(MYH9):c.1083C>T (p.Asp361=) rs56001030 0.00436
NM_002473.6(MYH9):c.2721C>T (p.Thr907=) rs148112044 0.00435
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_000260.4(MYO7A):c.5481-14G>A rs113075052 0.00372
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_004999.4(MYO6):c.*2716A>G rs188568413 0.00357
NM_004999.4(MYO6):c.*1607C>T rs77813459 0.00356
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_139319.3(SLC17A8):c.*1295T>C rs139917587 0.00355
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_004999.4(MYO6):c.*4481T>C rs142744723 0.00350
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_139319.3(SLC17A8):c.*507G>A rs73376066 0.00337
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228 0.00336
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753 0.00295
NM_004999.4(MYO6):c.*1287T>A rs570884031 0.00292
NM_006005.3(WFS1):c.*358T>C rs71530919 0.00289
NM_006005.3(WFS1):c.2205C>T (p.Tyr735=) rs71530911 0.00274
NM_004999.4(MYO6):c.*1627A>G rs147347025 0.00273
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
NM_006005.3(WFS1):c.1674C>T (p.Arg558=) rs61735402 0.00269
NM_004999.4(MYO6):c.3563A>G (p.Lys1188Arg) rs61734891 0.00266
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_006005.3(WFS1):c.*69C>T rs71530916 0.00257
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400 0.00249
NM_001145809.2(MYH14):c.5529C>T (p.Ser1843=) rs12610591 0.00248
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957 0.00240
NM_004999.4(MYO6):c.*3914T>C rs541767003 0.00228
NM_001145809.2(MYH14):c.*389C>G rs149455351 0.00223
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401 0.00223
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264 0.00210
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_002700.3(POU4F3):c.378G>A (p.Thr126=) rs113137300 0.00205
NM_006005.3(WFS1):c.854G>A (p.Arg285His) rs61735404 0.00205
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085 0.00204
NM_002473.6(MYH9):c.3485+8C>T rs149559551 0.00193
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_001127453.2(GSDME):c.658G>A (p.Gly220Ser) rs140666247 0.00179
NM_004086.3(COCH):c.1026C>T (p.Tyr342=) rs28362777 0.00173
NM_004999.4(MYO6):c.*301G>A rs116215208 0.00173
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363 0.00158
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004999.4(MYO6):c.2595C>T (p.Pro865=) rs150876010 0.00124
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_004999.4(MYO6):c.*3879G>A rs189646143 0.00105
NM_004100.5(EYA4):c.-356T>C rs375432060 0.00104
NM_004999.4(MYO6):c.*1785A>C rs139803503 0.00090
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=) rs41298745 0.00087
NM_006005.3(WFS1):c.1683C>T (p.Ile561=) rs71530906 0.00086
NM_006005.3(WFS1):c.2184C>T (p.Gly728=) rs71530908 0.00084
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787 0.00076
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001145809.2(MYH14):c.-13C>T rs187670753 0.00057
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_006005.3(WFS1):c.402G>A (p.Ala134=) rs199533137 0.00040
NM_002473.6(MYH9):c.2517G>A (p.Gln839=) rs34498733 0.00038
NM_001145809.2(MYH14):c.4753-5A>G rs118097099 0.00036
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_002473.6(MYH9):c.*906G>T rs192511111 0.00030
NM_004999.4(MYO6):c.*4446A>G rs148227849 0.00029
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_002473.6(MYH9):c.18C>T (p.Ala6=) rs141055332 0.00021
NM_004999.4(MYO6):c.*2996A>G rs536099586 0.00021
NM_004999.4(MYO6):c.262-9C>T rs187811833 0.00021
NM_139319.3(SLC17A8):c.723G>A (p.Leu241=) rs11568545 0.00019
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_002700.3(POU4F3):c.792C>T (p.Ser264=) rs149975083 0.00016
NM_006005.3(WFS1):c.2040G>A (p.Glu680=) rs375263408 0.00014
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_001145809.2(MYH14):c.1133C>T (p.Ser378Leu) rs150806988 0.00011
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_001145809.2(MYH14):c.2600G>A (p.Arg867His) rs547836952 0.00008
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_006005.3(WFS1):c.21G>T (p.Pro7=) rs372928810 0.00007
NM_138691.3(TMC1):c.*156T>C rs545955592 0.00005
NM_001145809.2(MYH14):c.*302G>A rs544178350 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_006005.3(WFS1):c.315+11C>T rs202232817 0.00004
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628 0.00002
NM_004086.3(COCH):c.630-9T>C rs368182881 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_000260.4(MYO7A):c.3702C>G (p.Thr1234=) rs77299211 0.00001
NM_001127453.2(GSDME):c.612C>T (p.Asp204=) rs551846110 0.00001
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044 0.00001
NM_004086.3(COCH):c.*39G>T rs555882283 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_005219.5(DIAPH1):c.*1607C>T rs527786719 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
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.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_001127453.2(GSDME):c.1334T>A (p.Phe445Tyr) rs61731036
NM_001127453.2(GSDME):c.1348C>T (p.Arg450Cys) rs151328414
NM_001127453.2(GSDME):c.424C>A (p.Pro142Thr) rs754554
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.33G>C (p.Arg11=) rs8106196
NM_002473.6(MYH9):c.5483+4C>G rs56327920
NM_002473.6(MYH9):c.5781G>T (p.Pro1927=) rs80050551
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004100.5(EYA4):c.*2968T>A rs181492427
NM_004100.5(EYA4):c.-244C>G rs112173873
NM_004100.5(EYA4):c.-326C>G rs117602794
NM_004999.4(MYO6):c.*2882del rs397812617
NM_004999.4(MYO6):c.*3296G>T rs7741414
NM_004999.4(MYO6):c.*4283A>G rs7746476
NM_004999.4(MYO6):c.*4283A>T rs7746476
NM_004999.4(MYO6):c.*875C>T rs184099248
NM_006005.3(WFS1):c.1134C>A (p.Thr378=) rs71530904
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1725C>T (p.Ala575=) rs2230719
NM_006005.3(WFS1):c.1797C>A (p.Val599=) rs71524361
NM_006005.3(WFS1):c.2370G>A (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.510C>G (p.Thr170=) rs151277039
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485

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