ClinVar Miner

List of variants reported as likely benign for auditory system disorder by Illumina Laboratory Services, Illumina

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 514
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=) rs41279908 0.10116
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=) rs2086005 0.09206
NM_182548.4(LHFPL5):c.*481T>C rs372152238 0.09046
NM_138691.3(TMC1):c.1713C>T (p.Phe571=) rs34532421 0.08866
NM_017433.5(MYO3A):c.-132A>G rs7073224 0.08457
NM_017433.5(MYO3A):c.624C>T (p.Asp208=) rs35010955 0.08016
NM_194248.3(OTOF):c.945G>A (p.Lys315=) rs41288779 0.07420
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_001384474.1(LOXHD1):c.5399+13G>A rs59128481 0.07068
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly) rs12606417 0.06993
NM_017433.5(MYO3A):c.660C>T (p.Ala220=) rs34067308 0.06790
NM_001146079.2(CLDN14):c.-82+2024G>A rs73902533 0.06423
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser) rs33947968 0.06209
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser) rs61742642 0.06008
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile) rs10163657 0.05881
NM_001256317.3(TMPRSS3):c.*409C>T rs55954914 0.05821
NM_012188.5(FOXI1):c.*924C>T rs45466695 0.05560
NM_001256317.3(TMPRSS3):c.-34G>A rs73372256 0.05210
NM_147196.3(TMIE):c.*695G>A rs77244938 0.05181
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208 0.04977
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183 0.04770
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=) rs45442103 0.04640
NM_147196.3(TMIE):c.*51C>T rs56002857 0.04613
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_002241.5(KCNJ10):c.*1032G>A rs17375748 0.04538
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_004999.4(MYO6):c.1722C>T (p.Asp574=) rs11756446 0.04242
NM_194248.3(OTOF):c.2829C>T (p.Gly943=) rs73920285 0.03958
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_194248.3(OTOF):c.4677G>A (p.Val1559=) rs2272071 0.03875
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_194248.3(OTOF):c.2703G>A (p.Ser901=) rs4997760 0.03814
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_194248.3(OTOF):c.*372C>T rs56025829 0.03793
NM_194248.3(OTOF):c.509+10A>G rs76712142 0.03772
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val) rs61739883 0.03615
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_194248.3(OTOF):c.2613C>T (p.Leu871=) rs2272068 0.03343
NM_001146079.2(CLDN14):c.*51G>A rs114551506 0.03325
NM_194248.3(OTOF):c.*650C>A rs57941637 0.03295
NM_001042702.5(PJVK):c.-28C>G rs74808009 0.03259
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_194248.3(OTOF):c.2022C>T (p.Asp674=) rs13004993 0.03023
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val) rs2230720 0.02889
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=) rs16960961 0.02872
NM_194248.3(OTOF):c.1926C>T (p.Asn642=) rs72853741 0.02727
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438 0.02648
NM_138691.3(TMC1):c.-540C>T rs112220638 0.02586
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_194248.3(OTOF):c.-120G>T rs114469860 0.02362
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_002241.5(KCNJ10):c.*413G>A rs79238495 0.02238
NM_017433.5(MYO3A):c.*246C>T rs12261671 0.02237
NM_002241.5(KCNJ10):c.*1430C>T rs114242410 0.02236
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_002906.4(RDX):c.-105C>T rs78818014 0.02156
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_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790 0.02130
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347 0.02079
NM_006185.4(NUMA1):c.-109C>T rs114912925 0.02058
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_147196.3(TMIE):c.-37C>A rs530579940 0.01988
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_016239.4(MYO15A):c.4533C>T (p.Ala1511=) rs114328138 0.01906
NM_005982.4(SIX1):c.*767A>T rs574976629 0.01905
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg) rs76468019 0.01903
NM_012188.5(FOXI1):c.*331G>C rs72828668 0.01897
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839 0.01879
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=) rs61744548 0.01800
NM_004999.4(MYO6):c.*1962A>G rs80199115 0.01750
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser) rs61740776 0.01706
NM_002241.5(KCNJ10):c.*3250G>C rs74855057 0.01694
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=) rs34723936 0.01692
NM_004999.4(MYO6):c.*3546A>G rs73751758 0.01688
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr) rs17058153 0.01664
NM_002906.4(RDX):c.*1375G>A rs79924211 0.01628
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=) rs115393178 0.01622
NM_194248.3(OTOF):c.-67G>A rs13422586 0.01603
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_002241.5(KCNJ10):c.*1498T>G rs75316108 0.01585
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly) rs41288773 0.01560
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys) rs80356569 0.01549
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=) rs80356578 0.01544
NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=) rs61733348 0.01525
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_006005.3(WFS1):c.2469C>T (p.Ile823=) rs1801215 0.01494
NM_000441.2(SLC26A4):c.*1302T>G rs112019874 0.01487
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_182548.4(LHFPL5):c.*447C>T rs549494089 0.01456
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_017433.5(MYO3A):c.-189C>G rs188597967 0.01399
NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=) rs34615182 0.01332
NM_002241.5(KCNJ10):c.*93C>T rs114052043 0.01296
NM_004999.4(MYO6):c.*1469G>T rs74367845 0.01285
NM_001256317.3(TMPRSS3):c.*189T>C rs114813487 0.01262
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_194248.3(OTOF):c.4629-9C>T rs72853726 0.01237
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile) rs33968748 0.01220
NM_004999.4(MYO6):c.1176A>G (p.Thr392=) rs2273857 0.01200
NM_014042.3(ANAPC15):c.*79A>G rs113912971 0.01193
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_012188.5(FOXI1):c.*556A>G rs77823283 0.01117
NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile) rs146351534 0.01096
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.1726G>A (p.Gly576Ser) rs1805069 0.01068
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=) rs114552047 0.01041
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000441.2(SLC26A4):c.*11G>A rs113496951 0.00867
NM_002241.5(KCNJ10):c.*1368C>T rs73021683 0.00847
NM_001256317.3(TMPRSS3):c.*191T>C rs116789917 0.00839
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_194248.3(OTOF):c.2025G>A (p.Glu675=) rs61746988 0.00801
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met) rs114274755 0.00791
NM_002473.6(MYH9):c.*1329C>T rs146582828 0.00786
NM_004999.4(MYO6):c.*3509G>A rs78129547 0.00783
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094 0.00782
NM_002473.6(MYH9):c.*686C>T rs55994070 0.00779
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=) rs577023485 0.00762
NM_004999.4(MYO6):c.*2910T>A rs140495245 0.00749
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His) rs61732664 0.00738
NM_001256317.3(TMPRSS3):c.*246G>A rs57692239 0.00691
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_005982.4(SIX1):c.-137C>T rs139621918 0.00654
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp) rs61746568 0.00630
NM_194248.3(OTOF):c.1185C>T (p.Thr395=) rs61739877 0.00596
NM_002473.6(MYH9):c.*81C>T rs56134611 0.00569
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe) rs147122501 0.00554
NM_004999.4(MYO6):c.*3288T>C rs118121148 0.00533
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys) rs75801377 0.00414
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476 0.00408
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_139319.3(SLC17A8):c.*480C>T rs118030087 0.00394
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_005219.5(DIAPH1):c.*217C>T rs55934506 0.00382
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_004100.5(EYA4):c.*2044A>G rs59167148 0.00365
NM_194248.3(OTOF):c.*220C>T rs72853716 0.00356
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp) rs145292219 0.00326
NM_001145809.2(MYH14):c.*427T>C rs190088995 0.00299
NM_139319.3(SLC17A8):c.*1090A>T rs540751555 0.00289
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535 0.00276
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_006005.3(WFS1):c.*288C>T rs56072224 0.00248
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp) rs61759484 0.00245
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser) rs71578980 0.00239
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_001145809.2(MYH14):c.1329+15C>T rs200176028 0.00227
NM_001145809.2(MYH14):c.*301C>T rs529409417 0.00218
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646 0.00218
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_004086.3(COCH):c.*814G>A rs543797568 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_006005.3(WFS1):c.227G>T (p.Gly76Val) rs200135768 0.00197
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_001145809.2(MYH14):c.*368C>G rs74582015 0.00192
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn) rs3821945 0.00185
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242 0.00183
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_000260.4(MYO7A):c.*38G>A rs149296177 0.00172
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977 0.00165
NM_005219.5(DIAPH1):c.*1322C>G rs530260919 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_005219.5(DIAPH1):c.*1637G>C rs531768148 0.00164
NM_001127453.2(GSDME):c.*321T>G rs573722628 0.00163
NM_001127453.2(GSDME):c.*72C>T rs115865539 0.00162
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004999.4(MYO6):c.*4095G>A rs185154265 0.00151
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly) rs182332665 0.00151
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_004086.3(COCH):c.*625T>C rs143467211 0.00149
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys) rs139767460 0.00144
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004086.3(COCH):c.1204A>G (p.Ile402Val) rs28362778 0.00143
NM_002473.6(MYH9):c.705+14C>T rs142552338 0.00139
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144 0.00138
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_004999.4(MYO6):c.2517T>C (p.Gly839=) rs112597191 0.00135
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn) rs202225655 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_004999.4(MYO6):c.1144G>A (p.Asp382Asn) rs111530469 0.00134
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu) rs34204285 0.00134
NM_000260.4(MYO7A):c.-211A>G rs41298129 0.00133
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_004999.4(MYO6):c.*303A>G rs146133231 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_004086.3(COCH):c.*245G>A rs45624239 0.00127
NM_005982.4(SIX1):c.-184A>C rs187402923 0.00127
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp) rs76368635 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668 0.00123
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036 0.00122
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_002473.6(MYH9):c.1176G>A (p.Pro392=) rs143316848 0.00121
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=) rs201535856 0.00118
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_004086.3(COCH):c.*339T>C rs187461561 0.00113
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_002473.6(MYH9):c.-19-7C>T rs184332718 0.00111
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_000307.5(POU3F4):c.*105C>T rs777244703 0.00107
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met) rs112716976 0.00107
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001127453.2(GSDME):c.528C>T (p.Val176=) rs138741730 0.00105
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_001145809.2(MYH14):c.36G>A (p.Lys12=) rs372741317 0.00100
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_005219.5(DIAPH1):c.*16C>T rs202086273 0.00096
NM_182548.4(LHFPL5):c.*485C>T rs534224847 0.00094
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011 0.00093
NM_139319.3(SLC17A8):c.-246T>C rs60738448 0.00093
NM_000260.4(MYO7A):c.1554+7C>T rs150114658 0.00090
NM_005219.5(DIAPH1):c.*1557C>T rs566532178 0.00090
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln) rs143269195 0.00088
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=) rs76069100 0.00088
NM_002473.6(MYH9):c.615C>T (p.Gly205=) rs139466141 0.00088
NM_002473.6(MYH9):c.1242C>T (p.Ile414=) rs138436678 0.00083
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_006005.3(WFS1):c.966C>T (p.His322=) rs140196582 0.00083
NM_002473.6(MYH9):c.*8C>T rs201455315 0.00081
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys) rs140613217 0.00081
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_004100.5(EYA4):c.*2588C>T rs140401218 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_139319.3(SLC17A8):c.*1243A>C rs146008884 0.00078
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753 0.00072
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743 0.00069
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00066
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=) rs144179406 0.00066
NM_006005.3(WFS1):c.*80C>T rs183014938 0.00065
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229 0.00064
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp) rs199575418 0.00063
NM_002473.6(MYH9):c.4344+10C>T rs200977419 0.00061
NM_005219.5(DIAPH1):c.*734C>T rs557696634 0.00061
NM_004100.5(EYA4):c.*1905T>A rs542036379 0.00060
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp) rs111033222 0.00059
NM_002764.3(PRPS1):c.-153delG rs768856537 0.00057
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_006005.3(WFS1):c.-148G>T rs542977017 0.00057
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys) rs71524353 0.00057
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=) rs139441456 0.00055
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_000260.4(MYO7A):c.-154G>A rs545774605 0.00054
NM_005982.4(SIX1):c.*443A>G rs186530769 0.00053
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln) rs199696801 0.00052
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624 0.00051
NM_004999.4(MYO6):c.*1232C>T rs182487428 0.00051
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg) rs766804741 0.00048
NM_006005.3(WFS1):c.*263T>G rs571223325 0.00048
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330 0.00044
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301 0.00042
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570 0.00040
NM_002473.6(MYH9):c.769+15C>T rs201691359 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_001127453.2(GSDME):c.*346G>C rs144928530 0.00038
NM_002473.6(MYH9):c.5765+9C>T rs201008102 0.00038
NM_004999.4(MYO6):c.*3230T>C rs562815854 0.00038
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His) rs781991817 0.00036
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_006005.3(WFS1):c.-141A>G rs373287522 0.00036
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_002473.6(MYH9):c.*329C>T rs566336121 0.00035
NM_004086.3(COCH):c.*237G>C rs190142757 0.00035
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser) rs200840044 0.00034
NM_000260.4(MYO7A):c.687C>T (p.Gly229=) rs371142158 0.00034
NM_001145809.2(MYH14):c.4138-13C>T rs183327883 0.00034
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_004999.4(MYO6):c.*3874G>A rs187631847 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_002473.6(MYH9):c.2500-14A>G rs199505086 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_005982.4(SIX1):c.-14G>T rs374228886 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp) rs201234369 0.00029
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00029
NM_001145809.2(MYH14):c.*86G>A rs772673014 0.00029
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys) rs187789045 0.00029
NM_004999.4(MYO6):c.*4288G>A rs570588843 0.00029
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667 0.00028
NM_002473.6(MYH9):c.4359G>A (p.Glu1453=) rs202127454 0.00028
NM_004999.4(MYO6):c.*1738A>G rs193019967 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg) rs142651446 0.00028
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_002473.6(MYH9):c.*325C>T rs189775203 0.00026
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005219.5(DIAPH1):c.*709C>T rs186922755 0.00026
NM_001145809.2(MYH14):c.5850G>A (p.Glu1950=) rs368708096 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys) rs199818783 0.00024
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_001127453.2(GSDME):c.*24G>A rs199887441 0.00024
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu) rs202242879 0.00024
NM_004999.4(MYO6):c.*4428A>G rs574549669 0.00024
NM_004999.4(MYO6):c.3483G>A (p.Glu1161=) rs139174622 0.00024
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005982.4(SIX1):c.*1079T>A rs559116477 0.00024
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776 0.00023
NM_006005.3(WFS1):c.2250C>T (p.Ala750=) rs369498603 0.00023
NM_139319.3(SLC17A8):c.*473T>C rs141694078 0.00023
NM_002473.6(MYH9):c.2061C>T (p.Leu687=) rs143801000 0.00022
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr) rs140125843 0.00022
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr) rs41298759 0.00021
NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val) rs202065396 0.00021
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser) rs147974629 0.00021
NM_006005.3(WFS1):c.1758C>T (p.Ala586=) rs145144527 0.00021
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907 0.00021
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser) rs200831684 0.00021
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_138691.3(TMC1):c.-124T>C rs533837914 0.00020
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=) rs372623270 0.00019
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004 0.00019
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala) rs144951440 0.00019
NM_000260.4(MYO7A):c.813C>T (p.Gly271=) rs781810349 0.00018
NM_004100.5(EYA4):c.*1350G>A rs553570769 0.00018
NM_004999.4(MYO6):c.*1889A>G rs189155544 0.00018
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269 0.00018
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=) rs148632964 0.00016
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys) rs150529554 0.00016
NM_002473.6(MYH9):c.2295C>T (p.Ala765=) rs150133983 0.00015
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys) rs201415443 0.00015
NM_004004.6(GJB2):c.241C>G (p.Leu81Val) rs145216882 0.00015
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_005982.4(SIX1):c.*1044G>T rs3742637 0.00014
NM_001145809.2(MYH14):c.*81A>G rs772326631 0.00013
NM_005219.5(DIAPH1):c.-28G>C rs573787753 0.00013
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=) rs145444485 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_000260.4(MYO7A):c.4568+13G>A rs532356676 0.00011
NM_004100.5(EYA4):c.*2188T>A rs376366555 0.00011
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile) rs188848517 0.00011
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_006005.3(WFS1):c.695G>A (p.Arg232His) rs375904080 0.00010
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile) rs150206751 0.00010
NM_001145809.2(MYH14):c.2544C>T (p.Ile848=) rs761170226 0.00009
NM_001145809.2(MYH14):c.5447G>A (p.Arg1816His) rs201923258 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala) rs747477628 0.00009
NM_138691.3(TMC1):c.760G>A (p.Val254Ile) rs111033497 0.00009
NM_139319.3(SLC17A8):c.*1839A>G rs372482024 0.00009
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) rs727502938 0.00008
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_001127453.2(GSDME):c.576+13G>A rs367730024 0.00006
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=) rs190941610 0.00006
NM_001145809.2(MYH14):c.3172-12T>C rs374486787 0.00006
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171 0.00006
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=) rs368537434 0.00006
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00006
NM_004999.4(MYO6):c.1180G>A (p.Val394Ile) rs373519764 0.00006
NM_004999.4(MYO6):c.2672C>T (p.Thr891Met) rs146682372 0.00006
NM_005219.5(DIAPH1):c.-49A>C rs570498572 0.00006
NM_006005.3(WFS1):c.1392C>T (p.Thr464=) rs565697340 0.00006
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp) rs2272070 0.00006
NM_001127453.2(GSDME):c.*429T>C rs538502935 0.00005
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val) rs534396774 0.00005
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu) rs200328859 0.00005
NM_002473.6(MYH9):c.933C>T (p.Pro311=) rs202045249 0.00005
NM_004999.4(MYO6):c.553+10A>G rs188959117 0.00005
NM_005982.4(SIX1):c.-24C>T rs201700039 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_000260.4(MYO7A):c.1797+13C>T rs782461418 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His) rs782179888 0.00004
NM_001127453.2(GSDME):c.906G>A (p.Leu302=) rs141596134 0.00004
NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln) rs185910660 0.00004
NM_002241.5(KCNJ10):c.-43G>A rs372841245 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_002764.4(PRPS1):c.720C>T (p.Gly240=) rs746885792 0.00004
NM_004100.5(EYA4):c.*2359C>T rs547907467 0.00004
NM_005219.5(DIAPH1):c.*755T>C rs561468918 0.00004
NM_006005.3(WFS1):c.375C>T (p.Thr125=) rs762324196 0.00004
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=) rs559209306 0.00003
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg) rs780594308 0.00003
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys) rs140157424 0.00003
NM_002473.6(MYH9):c.3606G>A (p.Ala1202=) rs771461880 0.00003
NM_002764.4(PRPS1):c.444G>A (p.Glu148=) rs201285459 0.00003
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe) rs757904271 0.00003
NM_005422.4(TECTA):c.1794G>C (p.Pro598=) rs570667892 0.00003
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_138691.3(TMC1):c.*26G>C rs191962062 0.00003
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His) rs397516311 0.00002
NM_002473.6(MYH9):c.318C>T (p.Tyr106=) rs202117532 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004999.4(MYO6):c.189T>G (p.Cys63Trp) rs768643110 0.00002
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys) rs142073640 0.00002
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=) rs782531164 0.00001
NM_001145809.2(MYH14):c.3303A>G (p.Leu1101=) rs543799021 0.00001
NM_004004.6(GJB2):c.546G>A (p.Val182=) rs752236261 0.00001
NM_004086.3(COCH):c.615C>T (p.Gly205=) rs548387738 0.00001
NM_004100.5(EYA4):c.*1820A>T rs184735364 0.00001
NM_005219.5(DIAPH1):c.*325G>C rs558843739 0.00001
NM_005422.4(TECTA):c.5205C>T (p.Ala1735=) rs762504147 0.00001
NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr) rs202079138 0.00001
NM_005422.4(TECTA):c.805C>G (p.Arg269Gly) rs777704329 0.00001
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu) rs149865710 0.00001
NM_000260.4(MYO7A):c.*416C>T rs549702559
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.4153-8C>T rs143216377
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.6559-11C>T rs34517202
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000307.5(POU3F4):c.*227CTTCC[3] rs763018226
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_001127453.2(GSDME):c.*81T>G rs541774350
NM_001127453.2(GSDME):c.939C>T (p.Ile313=) rs556679282
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001145809.2(MYH14):c.5384G>T (p.Arg1795Leu) rs567922009
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met) rs7244681
NM_002241.5(KCNJ10):c.*1027C>T rs12067668
NM_002241.5(KCNJ10):c.*1813C>A rs78280261
NM_002241.5(KCNJ10):c.*89C>T rs115130978
NM_002473.6(MYH9):c.2217G>C (p.Ala739=) rs756586731
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys) rs149303333
NM_004086.3(COCH):c.*612G>T rs541766600
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004999.4(MYO6):c.*1528C>T rs188719640
NM_004999.4(MYO6):c.*186A>G rs571307356
NM_004999.4(MYO6):c.*3039A>G rs540365866
NM_004999.4(MYO6):c.*4283A>T rs7746476
NM_005219.5(DIAPH1):c.*224G>A rs182541836
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly) rs373413837
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721
NM_006005.3(WFS1):c.-127A>G rs542116747
NM_006005.3(WFS1):c.114C>T (p.Ser38=) rs531593902
NM_006005.3(WFS1):c.1294C>T (p.Leu432=) rs35031397
NM_006005.3(WFS1):c.468G>T (p.Thr156=) rs201145164
NM_012188.5(FOXI1):c.*143A>T rs55762796
NM_015404.4(WHRN):c.-314C>T rs57258861
NM_016239.4(MYO15A):c.*628C>G rs55973639

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