ClinVar Miner

List of variants studied for Hearing impairment

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ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001378609.3(OTOGL):c.2564C>T (p.Pro855Leu) rs183159689 0.00111
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029 0.00100
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu) rs192047082 0.00083
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00081
NM_005548.3(KARS1):c.717T>G (p.Phe239Leu) rs117188693 0.00075
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 0.00073
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_001292063.2(OTOG):c.397G>A (p.Gly133Ser) rs186893662 0.00070
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_174878.3(CLRN1):c.433+1061A>T rs567709615 0.00067
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_001199799.2(ILDR1):c.461C>T (p.Ser154Leu) rs115649165 0.00057
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_015404.4(WHRN):c.1148C>A (p.Thr383Asn) rs147283064 0.00052
NM_001128228.3(TPRN):c.1573C>T (p.Arg525Trp) rs138547889 0.00051
NM_001384140.1(PCDH15):c.2581G>A (p.Val861Met) rs142512524 0.00051
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_001384474.1(LOXHD1):c.2575C>T (p.Arg859Trp) rs372546084 0.00043
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270 0.00042
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_002850.4(PTPRS):c.2552G>T (p.Arg851Leu) rs199604489 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_002160.4(TNC):c.6211G>A (p.Glu2071Lys) rs140573419 0.00036
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_005548.3(KARS1):c.1485A>G (p.Ile495Met) rs144274136 0.00033
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00031
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061 0.00030
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_017780.4(CHD7):c.6353A>G (p.Asn2118Ser) rs199614124 0.00026
NM_194248.3(OTOF):c.1960C>T (p.Arg654Trp) rs144259658 0.00026
NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val) rs200767869 0.00025
NM_016239.4(MYO15A):c.10181C>T (p.Ala3394Val) rs200249886 0.00024
NM_001195263.2(PDZD7):c.802G>A (p.Asp268Asn) rs202154862 0.00022
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_017433.5(MYO3A):c.152T>A (p.Ile51Asn) rs144008984 0.00021
NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr) rs202214380 0.00020
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_001039141.3(TRIOBP):c.6803G>A (p.Gly2268Asp) rs200411253 0.00019
NM_001042517.2(DIAPH3):c.1291A>G (p.Thr431Ala) rs746390263 0.00019
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_153676.4(USH1C):c.1399C>T (p.Arg467Trp) rs138996642 0.00017
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337 0.00016
NM_001384474.1(LOXHD1):c.2987G>A (p.Arg996His) rs370708358 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_032119.4(ADGRV1):c.2636C>T (p.Thr879Met) rs201007778 0.00014
NM_144672.4(OTOA):c.3377T>C (p.Leu1126Pro) rs568139514 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_004999.4(MYO6):c.271G>A (p.Ala91Thr) rs573770611 0.00013
NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala) rs146873772 0.00013
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys) rs777573595 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_001145809.2(MYH14):c.4731C>T (p.Ser1577=) rs766728732 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_004817.4(TJP2):c.2909G>A (p.Arg970Gln) rs150494393 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_022124.6(CDH23):c.7552G>A (p.Val2518Met) rs376617494 0.00011
NM_001384474.1(LOXHD1):c.811C>T (p.Arg271Cys) rs727503151 0.00010
NM_001844.5(COL2A1):c.3718C>T (p.Arg1240Trp) rs374082762 0.00010
NM_198999.3(SLC26A5):c.775G>A (p.Val259Met) rs765458806 0.00010
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001199799.2(ILDR1):c.655C>T (p.Arg219Cys) rs1365655840 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_002160.4(TNC):c.1822C>T (p.Arg608Cys) rs138819573 0.00009
NM_002700.3(POU4F3):c.214C>G (p.His72Asp) rs370712489 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_005422.4(TECTA):c.1132G>A (p.Val378Met) rs372860835 0.00009
NM_022124.6(CDH23):c.8534G>A (p.Arg2845His) rs199668532 0.00009
NM_206933.4(USH2A):c.2035G>A (p.Gly679Arg) rs367693972 0.00009
NM_001379180.1(ESRRB):c.1027C>T (p.Arg343Trp) rs143118664 0.00008
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_001256317.3(TMPRSS3):c.1076C>T (p.Ala359Val) rs200777266 0.00007
NM_001854.4(COL11A1):c.5359G>A (p.Asp1787Asn) rs144510951 0.00007
NM_004700.4(KCNQ4):c.419T>C (p.Ile140Thr) rs200053059 0.00007
NM_000260.4(MYO7A):c.4739A>G (p.Tyr1580Cys) rs370232066 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_001110219.3(GJB6):c.-16+1G>A rs946061258 0.00006
NM_001146079.2(CLDN14):c.364G>A (p.Gly122Ser) rs769599110 0.00006
NM_001384474.1(LOXHD1):c.2399T>A (p.Val800Glu) rs755485250 0.00006
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_005422.4(TECTA):c.1123G>A (p.Val375Ile) rs752254649 0.00006
NM_005422.4(TECTA):c.314A>G (p.Asn105Ser) rs752159524 0.00006
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 0.00006
NM_006941.4(SOX10):c.274G>C (p.Val92Leu) rs142113652 0.00006
NM_015404.4(WHRN):c.2307C>T (p.Gly769=) rs148971049 0.00006
NM_022124.6(CDH23):c.9941C>T (p.Thr3314Met) rs559427378 0.00006
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_001145026.2(PTPRQ):c.1015A>G (p.Arg339Gly) rs1245108213 0.00005
NM_001145026.2(PTPRQ):c.2546C>T (p.Thr849Met) rs974503422 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) rs200943280 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln) rs184399988 0.00005
NM_194248.3(OTOF):c.3428G>A (p.Arg1143Gln) rs1330253297 0.00005
NM_001145809.2(MYH14):c.5105T>C (p.Val1702Ala) rs775130663 0.00004
NM_001195263.2(PDZD7):c.481A>T (p.Met161Leu) rs372777810 0.00004
NM_001292063.2(OTOG):c.3740G>A (p.Ser1247Asn) rs955374063 0.00004
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) rs201777220 0.00004
NM_001384140.1(PCDH15):c.952G>C (p.Asp318His) rs747921916 0.00004
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe) rs1289895910 0.00004
NM_001384474.1(LOXHD1):c.5279A>C (p.Tyr1760Ser) rs753708345 0.00004
NM_002160.4(TNC):c.2491G>A (p.Asp831Asn) rs199896561 0.00004
NM_002850.4(PTPRS):c.3343G>A (p.Ala1115Thr) rs769925793 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004186.5(SEMA3F):c.1849G>A (p.Val617Met) rs1399111219 0.00004
NM_016239.4(MYO15A):c.8281G>A (p.Val2761Met) rs367717396 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_203290.4(POLR1C):c.608G>A (p.Arg203Gln) rs767435882 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_000260.4(MYO7A):c.1399C>T (p.Arg467Trp) rs782073796 0.00003
NM_000260.4(MYO7A):c.3014C>T (p.Ala1005Val) rs113326082 0.00003
NM_000260.4(MYO7A):c.5900G>A (p.Arg1967Gln) rs752881271 0.00003
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_001002295.2(GATA3):c.359C>T (p.Thr120Met) rs750735308 0.00003
NM_001127453.2(GSDME):c.611A>T (p.Asp204Val) rs376564087 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) rs1273842424 0.00003
NM_001378454.1(ALMS1):c.9460A>T (p.Thr3154Ser) rs553507775 0.00003
NM_001378609.3(OTOGL):c.890T>G (p.Val297Gly) rs776891390 0.00003
NM_001379180.1(ESRRB):c.599G>A (p.Arg200His) rs752185665 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_001854.4(COL11A1):c.3779C>A (p.Ala1260Glu) rs750838060 0.00003
NM_002906.4(RDX):c.694G>A (p.Asp232Asn) rs752091940 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004817.4(TJP2):c.2708A>C (p.Tyr903Ser) rs775354216 0.00003
NM_004999.4(MYO6):c.2039T>C (p.Phe680Ser) rs372399868 0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His) rs1051653507 0.00003
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp) rs780168150 0.00003
NM_013296.5(GPSM2):c.1876G>C (p.Val626Leu) rs727503087 0.00003
NM_017433.5(MYO3A):c.233T>G (p.Val78Gly) rs377015132 0.00003
NM_032119.4(ADGRV1):c.11783A>G (p.Tyr3928Cys) rs1179343056 0.00003
NM_206933.4(USH2A):c.1585A>C (p.Thr529Pro) rs201332729 0.00003
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000218.3(KCNQ1):c.1128+5G>A rs76735093 0.00002
NM_000260.4(MYO7A):c.5291A>G (p.Glu1764Gly) rs759346941 0.00002
NM_001039213.4(CEACAM16):c.1135C>T (p.Arg379Trp) rs771692758 0.00002
NM_001039213.4(CEACAM16):c.220G>A (p.Asp74Asn) rs536837008 0.00002
NM_001378609.3(OTOGL):c.4544G>A (p.Arg1515Gln) rs201232946 0.00002
NM_001384474.1(LOXHD1):c.6322G>A (p.Glu2108Lys) rs774836161 0.00002
NM_002160.4(TNC):c.6148C>T (p.Arg2050Cys) rs565954577 0.00002
NM_002473.6(MYH9):c.3103C>T (p.Arg1035Cys) rs772948183 0.00002
NM_002906.4(RDX):c.1024C>T (p.Arg342Cys) rs1030064754 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_005422.4(TECTA):c.5978G>A (p.Arg1993Gln) rs199881827 0.00002
NM_005908.4(MANBA):c.2158-2A>G rs772852668 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_015404.4(WHRN):c.508C>G (p.Leu170Val) rs748546471 0.00002
NM_016239.4(MYO15A):c.9515A>G (p.Gln3172Arg) rs375465287 0.00002
NM_022124.6(CDH23):c.2159G>A (p.Arg720Gln) rs768074758 0.00002
NM_032119.4(ADGRV1):c.3245C>T (p.Pro1082Leu) rs768921869 0.00002
NM_032119.4(ADGRV1):c.5969T>C (p.Val1990Ala) rs376559614 0.00002
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu) rs758796613 0.00002
NM_133261.3(GIPC3):c.880G>A (p.Asp294Asn) rs779309926 0.00002
NM_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_000260.4(MYO7A):c.1144G>T (p.Val382Leu) rs782440130 0.00001
NM_000260.4(MYO7A):c.1792G>A (p.Ala598Thr) rs566111152 0.00001
NM_000260.4(MYO7A):c.5786A>G (p.Gln1929Arg) rs748331176 0.00001
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys) rs780791787 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810 0.00001
NM_000441.2(SLC26A4):c.530A>C (p.Asp177Ala) rs1395069567 0.00001
NM_000503.6(EYA1):c.398C>T (p.Pro133Leu) rs138234228 0.00001
NM_000601.6(HGF):c.2183C>A (p.Ser728Ter) rs747516423 0.00001
NM_001001331.4(ATP2B2):c.10A>G (p.Met4Val) rs1473080344 0.00001
NM_001039141.3(TRIOBP):c.3692G>A (p.Arg1231His) rs756780935 0.00001
NM_001039213.4(CEACAM16):c.1054C>T (p.Arg352Cys) rs747961516 0.00001
NM_001042472.3(ABHD12):c.838G>A (p.Glu280Lys) rs995580201 0.00001
NM_001042517.2(DIAPH3):c.2857A>T (p.Met953Leu) rs776107505 0.00001
NM_001042517.2(DIAPH3):c.2863-3T>C rs1029660130 0.00001
NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln) rs532114292 0.00001
NM_001124758.3(SPNS2):c.643C>G (p.Pro215Ala) rs778581497 0.00001
NM_001128840.3(CACNA1D):c.1116+2T>C rs747136766 0.00001
NM_001128840.3(CACNA1D):c.3682G>A (p.Glu1228Lys) rs777098313 0.00001
NM_001128840.3(CACNA1D):c.6326G>C (p.Gly2109Ala) rs199761259 0.00001
NM_001145308.5(LRTOMT):c.249C>G (p.Phe83Leu) rs746981074 0.00001
NM_001145809.2(MYH14):c.3880C>G (p.Leu1294Val) rs776801210 0.00001
NM_001145809.2(MYH14):c.3974G>A (p.Arg1325Gln) rs201181045 0.00001
NM_001146079.2(CLDN14):c.169C>T (p.His57Tyr) rs745601274 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001195263.2(PDZD7):c.1960C>T (p.Arg654Trp) rs573956926 0.00001
NM_001195263.2(PDZD7):c.2695G>A (p.Ala899Thr) rs911911177 0.00001
NM_001199799.2(ILDR1):c.182G>A (p.Arg61His) rs138709949 0.00001
NM_001200.4(BMP2):c.178A>C (p.Met60Leu) rs773113395 0.00001
NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp) rs781395690 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001292063.2(OTOG):c.6250C>T (p.Arg2084Trp) rs180901190 0.00001
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378609.3(OTOGL):c.1892C>A (p.Ser631Tyr) rs373638514 0.00001
NM_001378609.3(OTOGL):c.2854G>A (p.Gly952Arg) rs759133667 0.00001
NM_001384140.1(PCDH15):c.1280T>C (p.Val427Ala) rs142698812 0.00001
NM_001384474.1(LOXHD1):c.2326C>T (p.Arg776Cys) rs1350221655 0.00001
NM_001692.4(ATP6V1B1):c.113G>A (p.Arg38His) rs782166295 0.00001
NM_001851.6(COL9A1):c.2456C>T (p.Pro819Leu) rs144581626 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_002473.6(MYH9):c.3682G>A (p.Glu1228Lys) rs746956415 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004086.3(COCH):c.1163A>G (p.Glu388Gly) rs1703098416 0.00001
NM_004086.3(COCH):c.538C>T (p.Arg180Ter) rs559481815 0.00001
NM_004525.3(LRP2):c.11798A>G (p.Tyr3933Cys) rs1474741555 0.00001
NM_004817.4(TJP2):c.85T>C (p.Trp29Arg) rs530470555 0.00001
NM_005422.4(TECTA):c.1475T>C (p.Val492Ala) rs753099302 0.00001
NM_005422.4(TECTA):c.2367G>A (p.Lys789=) rs1448260319 0.00001
NM_006005.3(WFS1):c.2437G>A (p.Val813Met) rs756972444 0.00001
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) rs1280894999 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.3646C>T (p.Arg1216Cys) rs547573001 0.00001
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe) rs375627187 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.5491G>A (p.Gly1831Arg) rs1260018632 0.00001
NM_016366.3(CABP2):c.470T>C (p.Leu157Pro) rs1349245853 0.00001
NM_017780.4(CHD7):c.6205C>G (p.Leu2069Val) rs752107963 0.00001
NM_018429.3(BDP1):c.7744-1G>A rs772970426 0.00001
NM_020982.4(CLDN9):c.416C>T (p.Thr139Met) rs571860251 0.00001
NM_022124.6(CDH23):c.3445A>G (p.Asn1149Asp) rs754128851 0.00001
NM_022124.6(CDH23):c.6546C>T (p.Ser2182=) rs749008207 0.00001
NM_022124.6(CDH23):c.6980T>A (p.Leu2327His) rs995094571 0.00001
NM_024915.4(GRHL2):c.1337G>A (p.Cys446Tyr) rs543526703 0.00001
NM_032119.4(ADGRV1):c.14474A>G (p.Asp4825Gly) rs377619015 0.00001
NM_032119.4(ADGRV1):c.16625C>A (p.Ala5542Asp) rs373121319 0.00001
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met) rs755818826 0.00001
NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp) rs1482152365 0.00001
NM_138691.3(TMC1):c.1334G>A (p.Arg445His) rs760532554 0.00001
NM_138691.3(TMC1):c.1660A>T (p.Asn554Tyr) rs776624164 0.00001
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_144991.3(TSPEAR):c.1162G>A (p.Val388Met) rs1318971093 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153676.4(USH1C):c.424A>G (p.Ile142Val) rs771861342 0.00001
NM_153676.4(USH1C):c.893T>C (p.Met298Thr) rs1461497965 0.00001
NM_194248.3(OTOF):c.1882G>A (p.Asp628Asn) rs1004631548 0.00001
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter) rs1249447410 0.00001
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp) rs1172714485 0.00001
NM_206933.4(USH2A):c.10058C>T (p.Pro3353Leu) rs755020832 0.00001
NM_206933.4(USH2A):c.12458C>T (p.Ala4153Val) rs779875423 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_206933.4(USH2A):c.8730T>A (p.Phe2910Leu) rs373811292 0.00001
NR_029512.1(MIR96):n.68A>G rs1425528986 0.00001
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)
NM_000091.5(COL4A3):c.3302G>A (p.Gly1101Glu) rs560592940
NM_000091.5(COL4A3):c.4720T>C (p.Trp1574Arg) rs2106289541
NM_000092.5(COL4A4):c.3736G>A (p.Ala1246Thr) rs2149978588
NM_000260.4(MYO7A):c.1021C>G (p.Leu341Val) rs782765242
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu) rs973746837
NM_000260.4(MYO7A):c.152A>C (p.Gln51Pro) rs375662903
NM_000260.4(MYO7A):c.2386C>T (p.Arg796Trp) rs111033339
NM_000260.4(MYO7A):c.2666C>T (p.Ala889Val) rs2135478407
NM_000260.4(MYO7A):c.3958A>G (p.Met1320Val) rs2135575353
NM_000260.4(MYO7A):c.3992A>G (p.Lys1331Arg) rs2135575658
NM_000260.4(MYO7A):c.4107G>T (p.Gln1369His) rs1565440220
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)
NM_000441.2(SLC26A4):c.1693T>G (p.Cys565Gly) rs767255075
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg) rs761210511
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter) rs2131482893
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039141.3(TRIOBP):c.2297dup (p.Asn767fs) rs2145833923
NM_001039141.3(TRIOBP):c.3910C>T (p.Arg1304Cys) rs550274094
NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs) rs756145453
NM_001039141.3(TRIOBP):c.5476A>C (p.Thr1826Pro) rs1925835902
NM_001039141.3(TRIOBP):c.6049G>C (p.Asp2017His) rs766424671
NM_001039141.3(TRIOBP):c.6328G>A (p.Ala2110Thr) rs1302649675
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001042517.2(DIAPH3):c.517C>G (p.Gln173Glu) rs1594483260
NM_001042702.5(PJVK):c.113T>C (p.Val38Ala) rs1339903244
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_001122659.3(EDNRB):c.924G>T (p.Gln308His) rs1878949429
NM_001128840.3(CACNA1D):c.3614C>T (p.Ser1205Leu) rs1183389331
NM_001145026.2(PTPRQ):c.1133C>A (p.Thr378Asn) rs2120546591
NM_001145026.2(PTPRQ):c.147_158del (p.Thr51_Thr54del) rs368946018
NM_001145026.2(PTPRQ):c.6883G>A (p.Glu2295Lys) rs2121305975
NM_001145319.2(PLS1):c.1087C>T (p.Leu363Phe) rs1560070780
NM_001145319.2(PLS1):c.713T>G (p.Leu238Arg) rs1577888561
NM_001145809.2(MYH14):c.2599C>T (p.Arg867Cys) rs753356694
NM_001145809.2(MYH14):c.4549G>A (p.Glu1517Lys) rs2123437042
NM_001145809.2(MYH14):c.5707C>T (p.Arg1903Cys) rs372637743
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001195263.2(PDZD7):c.1522+2dup rs2134047337
NM_001195263.2(PDZD7):c.2033C>T (p.Pro678Leu) rs1170141042
NM_001195263.2(PDZD7):c.2624G>C (p.Ser875Thr) rs2133994567
NM_001198533.2(OXR1):c.233A>G (p.Lys78Arg)
NM_001256317.3(TMPRSS3):c.1221del (p.Glu408fs) rs2146421764
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.307G>A (p.Asp103Asn) rs2052684166
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001256317.3(TMPRSS3):c.335G>T (p.Gly112Val) rs1163178020
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His) rs2146430688
NM_001277269.2:c.(?_3914)_(6474_?)del
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter) rs2134007236
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe) rs1051388148
NM_001292063.2(OTOG):c.2760-3C>G rs1590021279
NM_001292063.2(OTOG):c.882C>G (p.Asp294Glu) rs553788179
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.979A>C (p.Ile327Leu) rs2107529990
NM_001371333.1(DIABLO):c.702_712del (p.Tyr235fs) rs1057519151
NM_001371623.1(TCOF1):c.325A>G (p.Asn109Asp) rs2150538355
NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile) rs2104056063
NM_001378457.1(DMXL2):c.2912T>C (p.Ile971Thr) rs929185965
NM_001384140.1(PCDH15):c.386T>G (p.Ile129Ser) rs1330084526
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro) rs1051629865
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter) rs1598827506
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.842C>G (p.Ser281Cys) rs2143775658
NM_001692.4(ATP6V1B1):c.370C>T (p.Arg124Trp) rs727505222
NM_001851.6(COL9A1):c.82C>T (p.Arg28Cys) rs745566207
NM_001853.4(COL9A3):c.1588G>T (p.Gly530Trp) rs759377762
NM_001853.4(COL9A3):c.1924G>T (p.Gly642Trp) rs758789140
NM_001853.4(COL9A3):c.583A>G (p.Thr195Ala) rs746531996
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.3472G>T (p.Val1158Phe) rs2101222310
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4691A>G (p.Asp1564Gly) rs2100840741
NM_001854.4(COL11A1):c.5274+4A>C rs753930720
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_002160.4(TNC):c.490C>G (p.Arg164Gly) rs778273542
NM_002160.4(TNC):c.5611A>G (p.Lys1871Glu) rs1394493737
NM_002473.6(MYH9):c.3013A>G (p.Thr1005Ala) rs2146341726
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter) rs1284441535
NM_002700.3(POU4F3):c.746A>C (p.Gln249Pro) rs2126961833
NM_002700.3(POU4F3):c.966C>G (p.Phe322Leu) rs1760437546
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004086.3(COCH):c.1423G>C (p.Asp475His) rs2138878739
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004100.5(EYA4):c.1286G>C (p.Cys429Ser) rs1446619876
NM_004100.5(EYA4):c.1463dup (p.Glu490fs) rs2128782580
NM_004525.3(LRP2):c.7715+3A>T rs797045684
NM_004525.3(LRP2):c.8452_8452+1del
NM_004525.3(LRP2):c.9449G>A (p.Cys3150Tyr)
NM_004568.6(SERPINB6):c.290A>G (p.Glu97Gly) rs2113203054
NM_004700.4(KCNQ4):c.1251del (p.Cys418fs) rs2148324207
NM_004999.4(MYO6):c.1477C>A (p.Gln493Lys) rs759114945
NM_004999.4(MYO6):c.1756G>C (p.Val586Leu) rs1776720096
NM_004999.4(MYO6):c.2267T>A (p.Val756Glu) rs1777894570
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter) rs2149347766
NM_004999.4(MYO6):c.3340dup (p.Ala1114fs)
NM_004999.4(MYO6):c.3518T>C (p.Ile1173Thr) rs2149433527
NM_004999.4(MYO6):c.3764G>A (p.Arg1255His) rs751099407
NM_004999.4(MYO6):c.835A>T (p.Thr279Ser) rs2150265571
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_005219.5(DIAPH1):c.2108C>T (p.Pro703Leu) rs762356974
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005219.5(DIAPH1):c.946C>G (p.Gln316Glu) rs2154596450
NM_005422.4(TECTA):c.1807T>C (p.Tyr603His) rs2135080936
NM_005422.4(TECTA):c.2279A>T (p.Asp760Val) rs1456495966
NM_005422.4(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.4(TECTA):c.2785del (p.Val929fs) rs34851638
NM_005422.4(TECTA):c.4214G>A (p.Gly1405Asp) rs1216336175
NM_005422.4(TECTA):c.5272+4A>G rs1591461465
NM_005422.4(TECTA):c.668C>T (p.Pro223Leu) rs773877361
NM_005702.4(ERAL1):c.685A>T (p.Ile229Phe) rs2152642391
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln) rs745958233
NM_005982.4(SIX1):c.313G>T (p.Ala105Ser) rs2140241237
NM_005982.4(SIX1):c.338G>A (p.Arg113Gln) rs2140241207
NM_006005.3(WFS1):c.2498T>A (p.Leu833Gln) rs1386290018
NM_012188.5(FOXI1):c.307G>T (p.Gly103Trp) rs1053809070
NM_014208.3(DSPP):c.-21T>C rs1553903873
NM_014332.3(SMPX):c.140del (p.Pro47fs) rs2147387122
NM_014332.3(SMPX):c.238C>G (p.Leu80Val) rs2147386996
NM_015972.4(POLR1D):c.251T>A (p.Ile84Asn) rs2138519035
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1238G>C (p.Trp413Ser) rs2142245203
NM_016239.4(MYO15A):c.266A>C (p.Gln89Pro) rs2142237084
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.8261C>T (p.Thr2754Met) rs766544188
NM_016239.4(MYO15A):c.9467T>C (p.Leu3156Pro) rs2046774616
NM_016239.4(MYO15A):c.9583C>T (p.Pro3195Ser) rs2142402540
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu) rs199621031
NM_016929.5(CLIC5):c.614A>G (p.Tyr205Cys) rs2127294197
NM_017780.4(CHD7):c.8423A>C (p.Asn2808Thr) rs368224943
NM_022124.6(CDH23):c.1129G>A (p.Asp377Asn) rs779502033
NM_022124.6(CDH23):c.1484T>G (p.Val495Gly) rs2132664465
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.8299T>C (p.Phe2767Leu) rs370903798
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) rs1861130719
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) rs779948710
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn) rs2150302151
NM_032119.4(ADGRV1):c.17333T>C (p.Leu5778Pro) rs2150406842
NM_032119.4(ADGRV1):c.1954A>G (p.Ile652Val) rs749308308
NM_032119.4(ADGRV1):c.3232G>A (p.Glu1078Lys) rs2149447085
NM_032119.4(ADGRV1):c.6274A>C (p.Ile2092Leu) rs2149586553
NM_032119.4(ADGRV1):c.7319C>T (p.Ala2440Val) rs2149640041
NM_032119.4(ADGRV1):c.9512T>C (p.Leu3171Ser) rs2149767008
NM_032229.3(SLITRK6):c.1492C>T (p.Pro498Ser) rs755925837
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_057176.3(BSND):c.254T>C (p.Leu85Pro) rs2101647654
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.4338+5G>A rs2150522213
NM_080680.3(COL11A2):c.4540C>T (p.Arg1514Cys) rs780071501
NM_080680.3(COL11A2):c.4847G>T (p.Arg1616Met) rs1366292773
NM_133261.3(GIPC3):c.137G>A (p.Gly46Glu) rs2145268433
NM_133261.3(GIPC3):c.319C>G (p.Arg107Gly) rs138707041
NM_133261.3(GIPC3):c.937T>C (p.Ter313Gln) rs1466835034
NM_144672.4(OTOA):c.181T>C (p.Ser61Pro) rs369772866
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.658C>G (p.Arg220Gly) rs766327614
NM_153700.2(STRC):c.3091C>A (p.Pro1031Thr) rs1595961729
NM_153700.2:c.(?_1)_(5328_?)del
NM_153700.2:c.(?_3499)_(4993_?)del
NM_173477.5(USH1G):c.314C>T (p.Ala105Val) rs1567940507
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_181458.4(PAX3):c.1145C>A (p.Pro382His) rs756229758
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter) rs1389821363
NM_182548.4(LHFPL5):c.592G>A (p.Val198Met) rs369419802
NM_194248.3(OTOF):c.2677-2A>G rs1057518840
NM_194248.3(OTOF):c.4440G>A (p.Met1480Ile) rs727503354
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712
NM_194248.3(OTOF):c.874A>G (p.Thr292Ala) rs2148071933
NM_206933.4(USH2A):c.1270A>T (p.Met424Leu) rs2102654082
NM_206933.4(USH2A):c.14396C>T (p.Thr4799Ile) rs2102643267
NM_206933.4(USH2A):c.5320T>A (p.Leu1774Met) rs2102554556
NM_206933.4(USH2A):c.5919G>A (p.Val1973=) rs2102546199
NM_206933.4(USH2A):c.8452C>T (p.Pro2818Ser) rs1470809474
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
Single allele

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