ClinVar Miner

List of variants reported as pathogenic for obsolete rare genetic deafness

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 490
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519 0.00105
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter) rs554847663 0.00040
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val) rs111033303 0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849 0.00029
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411 0.00027
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947 0.00025
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_153700.2(STRC):c.4027C>T (p.Gln1343Ter) rs144948296 0.00018
NM_174878.3(CLRN1):c.368C>A (p.Ala123Asp) rs374963432 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004004.6(GJB2):c.94C>T (p.Arg32Cys) rs371024165 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln) rs111033270 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_194248.3(OTOF):c.2153G>A (p.Trp718Ter) rs111033383 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_153700.2(STRC):c.4402C>T (p.Arg1468Ter) rs377480477 0.00011
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989 0.00010
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309 0.00009
NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr) rs111033302 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001378609.3(OTOGL):c.1940G>A (p.Trp647Ter) rs377708973 0.00009
NM_032119.4(ADGRV1):c.14973-2A>G rs371981035 0.00009
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.370C>T (p.Gln124Ter) rs397516874 0.00008
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_001292063.2(OTOG):c.7418del (p.Arg2473fs) rs751369871 0.00007
NM_153700.2(STRC):c.3670C>T (p.Arg1224Ter) rs727503444 0.00007
NM_153700.2(STRC):c.379C>T (p.Arg127Ter) rs771264491 0.00007
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser) rs111033308 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_016239.4(MYO15A):c.8714-1G>A rs377015931 0.00006
NM_022124.6(CDH23):c.6050-9G>A rs367928692 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
NM_138691.3(TMC1):c.1165C>T (p.Arg389Ter) rs151001642 0.00006
NM_153700.2(STRC):c.4195G>T (p.Glu1399Ter) rs371513959 0.00006
NM_153700.2(STRC):c.4219-1G>A rs748854592 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_001378609.3(OTOGL):c.975del (p.Leu325fs) rs766753922 0.00005
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.8767C>T (p.Arg2923Ter) rs373462792 0.00005
NM_000260.4(MYO7A):c.1996C>T (p.Arg666Ter) rs121965085 0.00004
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214 0.00004
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215 0.00004
NM_000260.4(MYO7A):c.700C>T (p.Gln234Ter) rs41298133 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_013296.5(GPSM2):c.1492C>T (p.Arg498Ter) rs370907055 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_022124.6(CDH23):c.4309C>T (p.Arg1437Ter) rs397517329 0.00004
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762 0.00004
NM_138691.3(TMC1):c.1676G>A (p.Trp559Ter) rs876657728 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000260.4(MYO7A):c.6439-2A>G rs397516330 0.00003
NM_000441.2(SLC26A4):c.2089+1G>A rs727503430 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_004004.6(GJB2):c.169C>T (p.Gln57Ter) rs111033297 0.00003
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_006383.4(CIB2):c.300_309del (p.Glu100fs) rs765741202 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_194248.3(OTOF):c.4799+1G>A rs200147906 0.00003
NM_206933.4(USH2A):c.1000C>T (p.Arg334Trp) rs397517963 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.5392C>T (p.Gln1798Ter) rs397516317 0.00002
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192 0.00002
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423 0.00002
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_001384140.1(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121 0.00002
NM_004004.6(GJB2):c.596C>T (p.Ser199Phe) rs771748289 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005422.4(TECTA):c.5977C>T (p.Arg1993Ter) rs760574657 0.00002
NM_016239.4(MYO15A):c.2311del (p.Ser771fs) rs754865266 0.00002
NM_016239.4(MYO15A):c.3385C>T (p.Arg1129Ter) rs748868741 0.00002
NM_016239.4(MYO15A):c.8341-2A>C rs778404517 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_153676.4(USH1C):c.216G>A (p.Val72=) rs151045328 0.00002
NM_153700.2(STRC):c.3484del (p.Trp1162fs) rs727505074 0.00002
NM_206933.4(USH2A):c.12295-2A>G rs151148854 0.00002
NM_206933.4(USH2A):c.4645C>T (p.Arg1549Ter) rs199679165 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_000260.4(MYO7A):c.1556G>A (p.Gly519Asp) rs111033206 0.00001
NM_000260.4(MYO7A):c.1900C>T (p.Arg634Ter) rs111033180 0.00001
NM_000260.4(MYO7A):c.1963C>T (p.Gln655Ter) rs397516291 0.00001
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201 0.00001
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000260.4(MYO7A):c.2323C>T (p.Gln775Ter) rs201892914 0.00001
NM_000260.4(MYO7A):c.4293G>A (p.Trp1431Ter) rs397516308 0.00001
NM_000260.4(MYO7A):c.470+1G>A rs797044510 0.00001
NM_000260.4(MYO7A):c.494C>T (p.Thr165Met) rs111033174 0.00001
NM_000260.4(MYO7A):c.5101C>T (p.Arg1701Ter) rs111033182 0.00001
NM_000260.4(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015 0.00001
NM_000260.4(MYO7A):c.5617C>T (p.Arg1873Trp) rs397516321 0.00001
NM_000260.4(MYO7A):c.6029A>G (p.Asp2010Gly) rs111033175 0.00001
NM_000260.4(MYO7A):c.6070C>T (p.Arg2024Ter) rs111033198 0.00001
NM_000260.4(MYO7A):c.635G>A (p.Arg212His) rs28934610 0.00001
NM_000260.4(MYO7A):c.640G>A (p.Gly214Arg) rs111033283 0.00001
NM_000260.4(MYO7A):c.999T>G (p.Tyr333Ter) rs111033285 0.00001
NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter) rs397516416 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter) rs397516430 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001145308.5(LRTOMT):c.242G>A (p.Arg81Gln) rs137853185 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001378609.3(OTOGL):c.5014C>T (p.Arg1672Ter) rs759174628 0.00001
NM_001384140.1(PCDH15):c.2419dup (p.Ile807fs) rs781148814 0.00001
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter) rs773404494 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.3169C>T (p.Arg1057Ter) rs727505104 0.00001
NM_001384474.1(LOXHD1):c.5002C>T (p.Arg1668Ter) rs961865375 0.00001
NM_001692.4(ATP6V1B1):c.785+1G>A rs727504746 0.00001
NM_004004.6(GJB2):c.224G>A (p.Arg75Gln) rs28931593 0.00001
NM_004004.6(GJB2):c.269dup (p.Val91fs) rs730880338 0.00001
NM_004004.6(GJB2):c.31_68del (p.Gly11fs) rs397516873 0.00001
NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr) rs774518779 0.00001
NM_004700.4(KCNQ4):c.827G>C (p.Trp276Ser) rs80358277 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_013296.5(GPSM2):c.1063-1G>T rs773068151 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016239.4(MYO15A):c.5896C>T (p.Arg1966Ter) rs765468034 0.00001
NM_016239.4(MYO15A):c.7893+1G>A rs727503316 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_022124.6(CDH23):c.2289+1G>A rs769433759 0.00001
NM_022124.6(CDH23):c.7362+5G>A rs727502931 0.00001
NM_022124.6(CDH23):c.7776G>A (p.Trp2592Ter) rs397517353 0.00001
NM_032119.4(ADGRV1):c.12631C>T (p.Arg4211Ter) rs727504777 0.00001
NM_032119.4(ADGRV1):c.2398C>T (p.Arg800Ter) rs373780305 0.00001
NM_032119.4(ADGRV1):c.7129C>T (p.Arg2377Ter) rs758718347 0.00001
NM_144672.4(OTOA):c.1880+1G>A rs148690740 0.00001
NM_153700.2(STRC):c.3217C>T (p.Arg1073Ter) rs876657725 0.00001
NM_153700.2(STRC):c.4510del (p.Glu1504fs) rs759816064 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_194248.3(OTOF):c.3864+1G>A rs758918226 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter) rs397517976 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.14803C>T (p.Arg4935Ter) rs146733615 0.00001
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter) rs397517994 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.2209C>T (p.Arg737Ter) rs111033334 0.00001
NM_206933.4(USH2A):c.2541C>A (p.Cys847Ter) rs727503736 0.00001
NM_206933.4(USH2A):c.2610C>A (p.Cys870Ter) rs767078782 0.00001
NM_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_206933.4(USH2A):c.5776+1G>A rs876657731 0.00001
NM_206933.4(USH2A):c.6224G>A (p.Trp2075Ter) rs111033386 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.8681+1G>A rs876657733 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9304C>T (p.Gln3102Ter) rs397518046 0.00001
NC_000001.10:g.(?_216260061)_(216270555_?)del
NC_000002.12:g.(?_222201051)_(222295679_?)del
NC_000005.10:g.(?_90614729)_(90784051_?)del
NC_000009.12:g.(?_72648590)_(72648670_?)del
NC_000010.11:g.71682535dup rs753886326
NC_000011.10:g.77162854del rs606231379
NC_000011.10:g.77190085_77190095del rs397516303
NC_000011.10:g.77198597_77198604delinsCA rs111033259
NC_000011.10:g.77207391_77207401del rs876657713
NC_000013.11:g.20188982_20188990delinsGAATGTCATGAACACTG rs111033335
NC_000015.10:g.(?_43638998)_(43639062_?)del
NC_000019.10:g.3586548_3586564del rs727504771
NC_012920.1(MT-ND1):m.1555A>G rs267606617
NC_012920.1(MT-TS1):m.7471dup rs111033319
NM_000260.3(MYO7A):c.(?_6355)_(6648_?)del
NM_000260.4(MYO7A):c.1200+1G>A rs397516283
NM_000260.4(MYO7A):c.1344-2A>G rs111033415
NM_000260.4(MYO7A):c.141G>A (p.Trp47Ter) rs397516285
NM_000260.4(MYO7A):c.2094+1G>A rs111033404
NM_000260.4(MYO7A):c.2172del (p.Lys725fs) rs397516294
NM_000260.4(MYO7A):c.2283-1G>T rs397516295
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.3327del (p.His1109fs) rs111033433
NM_000260.4(MYO7A):c.3564_3571delinsA (p.Tyr1188_Gly1191delinsTer) rs797044513
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs) rs397516304
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000260.4(MYO7A):c.4555del (p.Val1519fs) rs876657712
NM_000260.4(MYO7A):c.4821T>A (p.Tyr1607Ter) rs397516315
NM_000260.4(MYO7A):c.496del (p.Glu166fs) rs111033448
NM_000260.4(MYO7A):c.52C>T (p.Gln18Ter) rs1555051455
NM_000260.4(MYO7A):c.5581dup (p.Arg1861fs) rs397516320
NM_000260.4(MYO7A):c.582del (p.Ile195fs) rs111033238
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000260.4(MYO7A):c.6025del (p.Ala2009fs) rs397516326
NM_000260.4(MYO7A):c.6231dup (p.Lys2078fs) rs730880367
NM_000260.4(MYO7A):c.6498C>A (p.Tyr2166Ter) rs397516331
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.73G>A (p.Gly25Arg) rs782252317
NM_000260.4(MYO7A):c.77C>A (p.Ala26Glu) rs369125667
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000260.4(MYO7A):c.973_976del (p.Ile325fs) rs797044490
NM_000307.5(POU3F4):c.499C>T (p.Arg167Ter) rs111033345
NM_000307.5(POU3F4):c.607_610del (p.Gln203fs) rs876657719
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1544+1G>A rs876657722
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2188C>T (p.Gln730Ter) rs397516428
NM_000441.2(SLC26A4):c.2215C>T (p.Gln739Ter) rs727503431
NM_000441.2(SLC26A4):c.2224del (p.Ile742fs) rs876657723
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.765+2T>C rs397516432
NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter) rs876657689
NM_000503.6(EYA1):c.1122del (p.Leu374fs) rs397517916
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln) rs121909196
NM_000503.6(EYA1):c.1361-1G>T rs397517917
NM_000503.6(EYA1):c.1475+1G>C rs727503042
NM_000503.6(EYA1):c.1697_1698insT (p.Lys566fs) rs397517919
NM_000503.6(EYA1):c.241C>T (p.Gln81Ter) rs1554550637
NM_000503.6(EYA1):c.396_406del (p.Gln132fs) rs876657690
NM_000503.6(EYA1):c.428G>A (p.Trp143Ter) rs727504494
NM_000503.6(EYA1):c.896C>A (p.Ser299Ter) rs876657691
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter) rs121909195
NM_001039141.3(TRIOBP):c.3232dup (p.Arg1078fs) rs768625959
NM_001080476.3(GRXCR1):c.594_597dup (p.Val200fs) rs1553941938
NM_001122659.3(EDNRB):c.618G>A (p.Trp206Ter) rs876657688
NM_001127366.2(PAX3):c.(?_-77)_(583_?)+547del
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001128228.3(TPRN):c.225_235del (p.Gly76fs) rs387906221
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs) rs786204428
NM_001199799.2(ILDR1):c.583C>T (p.Gln195Ter) rs387907017
NM_001256317.3(TMPRSS3):c.1189C>T (p.Gln397Ter) rs727504304
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.323-6G>A rs374793617
NM_001292063.2(OTOG):c.379C>T (p.Gln127Ter) rs1851981434
NM_001354604.2(MITF):c.1043G>A (p.Trp348Ter) rs876657698
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.704C>G (p.Ser235Ter) rs876657700
NM_001354604.2(MITF):c.773_785dup (p.Asp263fs) rs1553703619
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs) rs764178233
NM_001378609.3(OTOGL):c.5341del (p.Ser1781fs) rs772723774
NM_001384140.1(PCDH15):c.16del (p.Tyr6fs) rs397517451
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter) rs727504301
NM_001384140.1(PCDH15):c.1998-2A>G rs397517452
NM_001384140.1(PCDH15):c.3441dup (p.Phe1148fs) rs770832663
NM_001384474.1(LOXHD1):c.2303del (p.Gly768fs) rs727503146
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter) rs1555679863
NM_001384474.1(LOXHD1):c.4099G>T (p.Glu1367Ter) rs373937326
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_002473.6(MYH9):c.4546G>T (p.Val1516Leu) rs727503284
NM_002906.4(RDX):c.1308del (p.Lys438fs) rs727504709
NM_004004.6(GJB2):c.223C>T (p.Arg75Trp) rs104894402
NM_004004.6(GJB2):c.230G>A (p.Trp77Ter) rs104894395
NM_004004.6(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>A (p.Val84Met) rs104894409
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.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.426C>A (p.Phe142Leu) rs397516877
NM_004004.6(GJB2):c.523_533del (p.Pro175fs) rs876657693
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.564_565del (p.Lys188fs) rs770116143
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004004.6(GJB2):c.95G>A (p.Arg32His) rs111033190
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe) rs121908932
NM_004100.4(EYA4):c.724_(804_?)del
NM_004700.4(KCNQ4):c.459del (p.Ala154fs) rs727504635
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004999.4(MYO6):c.2814_2815del (p.Arg939fs) rs876657709
NM_004999.4(MYO6):c.458C>G (p.Ser153Ter) rs876657710
NM_005219.5(DIAPH1):c.3637C>T (p.Arg1213Ter) rs876657776
NM_005422.4(TECTA):c.2139C>A (p.Cys713Ter) rs768295360
NM_005422.4(TECTA):c.5754_5755del (p.Val1918_Ile1919insTer) rs1555129231
NM_006005.3(WFS1):c.1060_1062del (p.Phe354del) rs876657735
NM_006005.3(WFS1):c.1243_1245del (p.Val415del) rs863224265
NM_006005.3(WFS1):c.1441_1447dup (p.Val483fs) rs727503745
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) rs387906930
NM_006005.3(WFS1):c.2054G>C (p.Arg685Pro) rs142668478
NM_006005.3(WFS1):c.2141A>C (p.Asn714Thr) rs397517196
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) rs28937893
NM_006005.3(WFS1):c.2389G>A (p.Asp797Asn) rs1553879004
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_006941.3(SOX10):c.(?_698)_(1401_?)del
NM_006941.4(SOX10):c.426G>A (p.Trp142Ter) rs1555939403
NM_007123.6(USH2A):c.1992dup (p.Lys665Ter) rs730880349
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_013296.5(GPSM2):c.1473del (p.Phe492fs) rs772372530
NM_013296.5(GPSM2):c.742del (p.Gly249fs) rs528069912
NM_015404.4(WHRN):c.1267C>T (p.Arg423Ter) rs397517255
NM_015404.4(WHRN):c.643del (p.Val215fs) rs397517258
NM_016239.4(MYO15A):c.10136C>A (p.Ser3379Ter) rs546575046
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.3026del (p.Pro1009fs) rs1555539827
NM_016239.4(MYO15A):c.5531+1G>A rs727503309
NM_016239.4(MYO15A):c.5851del (p.Ser1951fs) rs727504995
NM_016239.4(MYO15A):c.6892C>T (p.Arg2298Ter)
NM_016239.4(MYO15A):c.7006dup (p.Gln2336fs) rs397517286
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.7184_7185del (p.Leu2394_Phe2395insTer) rs1415858976
NM_016239.4(MYO15A):c.7226del (p.Pro2409fs) rs727503315
NM_016239.4(MYO15A):c.8100del (p.Lys2701fs) rs397517287
NM_016239.4(MYO15A):c.9303+1G>T rs876657708
NM_016239.4(MYO15A):c.9612+9_10082del
NM_022124.5(CDH23):c.(?_3716)_(4146_?)del
NM_022124.6(CDH23):c.1449+1G>T rs876657680
NM_022124.6(CDH23):c.2012del (p.Phe671fs) rs397517313
NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter) rs397517323
NM_022124.6(CDH23):c.3628C>T (p.Gln1210Ter) rs397517326
NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter) rs397517327
NM_022124.6(CDH23):c.46del (p.Val16fs) rs397517331
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5712+1G>A rs397517341
NM_022124.6(CDH23):c.5923+1G>A rs397517346
NM_022124.6(CDH23):c.6049+1G>A rs111033247
NM_022124.6(CDH23):c.6968del (p.Pro2323fs) rs397517350
NM_022124.6(CDH23):c.7483-1G>C rs876657682
NM_022124.6(CDH23):c.7873-2A>T rs727502933
NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs) rs727504761
NM_022124.6(CDH23):c.8064+1G>T rs1474524543
NM_022124.6(CDH23):c.8781C>A (p.Tyr2927Ter) rs397517362
NM_022124.6(CDH23):c.9176del (p.Pro3059fs) rs1554877806
NM_022124.6(CDH23):c.945+1G>T rs727502919
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter) rs773464867
NM_022124.6(CDH23):c.9629_9632del (p.Ile3210fs) rs397517367
NM_032119.3(ADGRV1):c.(?_4379)_(4752_?)del
NM_032119.4(ADGRV1):c.(?_18153)-15_*(15_?)del
NM_032119.4(ADGRV1):c.10060_10063del (p.Thr3354fs) rs727504978
NM_032119.4(ADGRV1):c.11253C>G (p.Tyr3751Ter) rs376689763
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.14885G>A (p.Trp4962Ter) rs876657694
NM_032119.4(ADGRV1):c.1701del (p.Leu568fs) rs876657695
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17662del (p.Ser5888fs) rs397517426
NM_032119.4(ADGRV1):c.2302G>T (p.Glu768Ter) rs1554068885
NM_032119.4(ADGRV1):c.2870dup (p.Asn957fs) rs397517429
NM_032119.4(ADGRV1):c.5643del (p.Tyr1882fs) rs727503076
NM_032119.4(ADGRV1):c.5779_5783dup (p.Ser1928fs) rs730880369
NM_032119.4(ADGRV1):c.7006C>T (p.Arg2336Ter) rs527236133
NM_032119.4(ADGRV1):c.7374_7375del (p.Glu2459fs) rs397517435
NM_032119.4(ADGRV1):c.7406G>A (p.Trp2469Ter) rs397517436
NM_032119.4(ADGRV1):c.8620C>T (p.Gln2874Ter) rs758834029
NM_032119.4(ADGRV1):c.8737del (p.Val2913fs) rs397517441
NM_032119.4(ADGRV1):c.9877C>T (p.Arg3293Ter) rs769215629
NM_033056.3(PCDH15):c.(?_-15)_(876_?)del
NM_033056.3(PCDH15):c.(?_3374)_(3501_?)del
NM_133261.3(GIPC3):c.411+1G>A rs876657692
NM_138691.3(TMC1):c.1236del (p.Met413fs) rs876657727
NM_138691.3(TMC1):c.1677G>A (p.Trp559Ter) rs876657729
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_138691.3(TMC1):c.215_219dup (p.Arg74fs) rs730880359
NM_138691.3(TMC1):c.22del (p.Ile8fs) rs727504554
NM_144672.3(OTOA):c.(?_-46)_(2431_?)+58del
NM_144672.3(OTOA):c.(?_1)_(3420_?)del
NM_144672.3(OTOA):c.(?_2302)_(2431_?)del
NM_144672.4(OTOA):c.1688+1G>T rs727503350
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_144672.4(OTOA):c.268-2A>G rs770892393
NM_144672.4(OTOA):c.2960_2961del (p.His987fs)
NM_144672.4(OTOA):c.746_751delinsA (p.Ser249fs) rs876657716
NM_144672.4(OTOA):c.828del (p.Ser277fs) rs751447996
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_153700.2(STRC):c.(?_1)_(5328_?)del
NM_153700.2(STRC):c.(?_3795)_(4993_?)del
NM_153700.2(STRC):c.(?_4376)-190_(4845_?)-68del
NM_153700.2(STRC):c.(?_4443)_(4845_?)-68del
NM_153700.2(STRC):c.(?_4702)_(4993_?)del
NM_153700.2(STRC):c.1086C>A (p.Tyr362Ter) rs876657724
NM_153700.2(STRC):c.2356del (p.Leu786fs) rs1432916745
NM_153700.2(STRC):c.259C>T (p.Gln87Ter) rs1344019160
NM_153700.2(STRC):c.3493C>T (p.Gln1165Ter) rs876657726
NM_153700.2(STRC):c.3502_3503del (p.Gln1168fs) rs764864372
NM_153700.2(STRC):c.3606del (p.Ile1203fs)
NM_153700.2(STRC):c.4375+1G>A rs766595464
NM_153700.2(STRC):c.461del (p.Pro154fs) rs1411667337
NM_153700.2(STRC):c.4701+1G>A rs199839039
NM_153700.2(STRC):c.4796_4800del (p.Cys1599fs) rs727503442
NM_172058.2(EYA1):c.(?_-66)_(*76_?)del
NM_172058.2(EYA1):c.(?_1598-56)_(*1968_?)del
NM_172095.1(CATSPER2):c.(?_718-34)_(843-857_?)del
NM_173591.3(OTOGL):c.(?_2657)_(4690_?)del
NM_173591.3(OTOGL):c.(?_6305)-71_*(79_?)del
NM_174878.3(CLRN1):c.301_305del (p.Val101fs) rs397517932
NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter) rs758136826
NM_181458.4(PAX3):c.668G>A (p.Arg223Gln) rs876657717
NM_181458.4(PAX3):c.873dup (p.Gly292fs) rs1553572976
NM_181458.4(PAX3):c.879dup (p.Phe294fs) rs1553572967
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter) rs397515591
NM_194248.3(OTOF):c.2348del (p.Gly783fs) rs80356591
NM_194248.3(OTOF):c.2818C>T (p.Gln940Ter) rs727504936
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.2991+2T>G rs370132645
NM_194248.3(OTOF):c.3178del (p.Ala1060fs) rs727504639
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter) rs80356600
NM_194248.3(OTOF):c.5203del (p.Arg1735fs) rs727503352
NM_198159.2(MITF):c.(?_355)-1203_*(78_?)del
NM_198159.2(MITF):c.(?_938)-102_*(78_?)del
NM_206933.2(USH2A):c.(?_1645)_(1840_?)del
NM_206933.2(USH2A):c.(?_5299)_(5572_?)del (p.(?))
NM_206933.2(USH2A):c.(?_7301)_(8223_?)del
NM_206933.2(USH2A):c.(?_785)_(1840_?)del
NM_206933.2(USH2A):c.(?_8682)_(8845_?)del
NM_206933.2(USH2A):c.11048-?_11711+?dup
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.10190_10191del (p.Lys3397fs) rs397517964
NM_206933.4(USH2A):c.11048-1G>A rs111033414
NM_206933.4(USH2A):c.11145T>A (p.Tyr3715Ter) rs727504608
NM_206933.4(USH2A):c.11411del (p.Pro3804fs) rs397517973
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.12067-1G>C rs397517977
NM_206933.4(USH2A):c.12714T>G (p.Tyr4238Ter) rs397517981
NM_206933.4(USH2A):c.12868C>T (p.Gln4290Ter) rs397517983
NM_206933.4(USH2A):c.13374del (p.Glu4458fs) rs727503715
NM_206933.4(USH2A):c.13711G>T (p.Glu4571Ter) rs751411512
NM_206933.4(USH2A):c.14031dup (p.Ala4678fs) rs397517988
NM_206933.4(USH2A):c.14180G>A (p.Trp4727Ter) rs397517989
NM_206933.4(USH2A):c.14248C>T (p.Gln4750Ter) rs727504867
NM_206933.4(USH2A):c.2809+2T>A rs1553320397
NM_206933.4(USH2A):c.2898del (p.Thr967fs) rs397518008
NM_206933.4(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.3558del (p.Cys1186fs) rs397518014
NM_206933.4(USH2A):c.4133_4134dup (p.Asn1379fs) rs397518015
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.5001dup (p.Gly1668fs) rs397518018
NM_206933.4(USH2A):c.5788C>T (p.Arg1930Ter) rs397518021
NM_206933.4(USH2A):c.5858-1G>A rs397518023
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.632G>A (p.Trp211Ter) rs727504893
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6639del (p.Lys2213fs) rs876657732
NM_206933.4(USH2A):c.7244C>G (p.Ser2415Ter) rs397518029
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.820C>T (p.Arg274Ter) rs397518036
NM_206933.4(USH2A):c.9159T>G (p.Tyr3053Ter) rs397518042
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9459C>A (p.Cys3153Ter) rs73090721

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.