ClinVar Miner

List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 4

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NC_000007.14:g.107660756T>C rs60284988 0.00209
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
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_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244 0.00016
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
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_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp) rs111033307 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
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_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316 0.00006
NM_000441.2(SLC26A4):c.165-1G>A rs759792660 0.00005
NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs) rs1421964916 0.00005
NM_012188.5(FOXI1):c.773G>A (p.Gly258Glu) rs121909340 0.00005
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_000441.2(SLC26A4):c.279del (p.Ser93fs) rs786204421 0.00004
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 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.2171A>G (p.Asp724Gly) rs757820624 0.00003
NM_012188.5(FOXI1):c.800G>A (p.Arg267Gln) rs121909341 0.00003
NM_000441.2(SLC26A4):c.1149+3A>G rs111033314 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000441.2(SLC26A4):c.1341+1G>C rs376653349 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254 0.00002
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1150-1G>A rs1791525285 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 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.1615-2A>G rs758823761 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter) rs111033200 0.00001
NM_000441.2(SLC26A4):c.1746del (p.Ala584fs) rs1241745103 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.1984dup (p.Cys662fs) rs1271700356 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.2106del (p.Lys702fs) rs1374832271 0.00001
NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro) rs1045933779 0.00001
NM_000441.2(SLC26A4):c.349del (p.Leu117fs) rs1275009555 0.00001
NM_000441.2(SLC26A4):c.415+7A>G rs765884316 0.00001
NM_000441.2(SLC26A4):c.439A>G (p.Met147Val) rs760413427 0.00001
NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr) rs1205712508 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299 0.00001
NM_000441.2(SLC26A4):c.916dup (p.Val306fs) rs768245266 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_002241.5(KCNJ10):c.500C>T (p.Ala167Val) rs137853070 0.00001
NM_000441.1(SLC26A4):c.1342-2_1343dup rs111033407
NM_000441.1(SLC26A4):c.[1468A>C;1489G>A]
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.-3-2A>T
NM_000441.2(SLC26A4):c.1001+1G>T rs80338849
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.2(SLC26A4):c.100C>T (p.Gln34Ter)
NM_000441.2(SLC26A4):c.1022dup (p.Pro342fs)
NM_000441.2(SLC26A4):c.1054del (p.Ala352fs) rs2129315801
NM_000441.2(SLC26A4):c.1097C>G (p.Ser366Ter)
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1102G>C (p.Gly368Arg)
NM_000441.2(SLC26A4):c.1103del (p.Gly368fs)
NM_000441.2(SLC26A4):c.1105A>G (p.Lys369Glu) rs121908361
NM_000441.2(SLC26A4):c.1115C>T (p.Ala372Val) rs121908364
NM_000441.2(SLC26A4):c.1141G>A (p.Gly381Arg)
NM_000441.2(SLC26A4):c.1149+1G>A
NM_000441.2(SLC26A4):c.1149+1G>T
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1231del (p.Ala411fs)
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1262A>T (p.Gln421Leu) rs201660407
NM_000441.2(SLC26A4):c.1263+1G>A rs1057517000
NM_000441.2(SLC26A4):c.1264-12T>A rs2129316889
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1264-1G>T
NM_000441.2(SLC26A4):c.1279T>C (p.Ser427Pro)
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1291del (p.Ile430_Val431insTer)
NM_000441.2(SLC26A4):c.1299dup (p.Ala434fs) rs2129316898
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1327G>C (p.Glu443Gln) rs2129316906
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg) rs768471577
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1341+1del rs397516417
NM_000441.2(SLC26A4):c.1341+2T>C
NM_000441.2(SLC26A4):c.1342-1_1342insCTG rs2129316936
NM_000441.2(SLC26A4):c.1343C>A (p.Ser448Ter) rs747076316
NM_000441.2(SLC26A4):c.1369A>G (p.Asn457Asp) rs2129316944
NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys) rs1554359670
NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter) rs201636911
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1437+5G>A
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala) rs727505088
NM_000441.2(SLC26A4):c.1536_1537del (p.Arg512fs)
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys) rs121908366
NM_000441.2(SLC26A4):c.1544delT (p.Pro516fs)
NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs) rs786204450
NM_000441.2(SLC26A4):c.1553G>A (p.Trp518Ter)
NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter) rs727503428
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.1591A>C (p.Lys531Gln)
NM_000441.2(SLC26A4):c.1594A>C (p.Ser532Arg) rs2129317533
NM_000441.2(SLC26A4):c.1594del (p.Ser532fs)
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1614+1G>T rs111033312
NM_000441.2(SLC26A4):c.164+1del rs786204504
NM_000441.2(SLC26A4):c.164+2T>C rs397516420
NM_000441.2(SLC26A4):c.164+2T>G
NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs) rs1554360678
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.1703_1707+6del
NM_000441.2(SLC26A4):c.1708-2A>G
NM_000441.2(SLC26A4):c.1716T>A (p.Phe572Leu) rs2129318096
NM_000441.2(SLC26A4):c.1786C>T (p.Gln596Ter) rs1476190682
NM_000441.2(SLC26A4):c.1803+1G>C rs2129318119
NM_000441.2(SLC26A4):c.1803+2T>C rs768454870
NM_000441.2(SLC26A4):c.1817del (p.Ser606fs)
NM_000441.2(SLC26A4):c.1828del (p.Ser610fs) rs2129318234
NM_000441.2(SLC26A4):c.1835_1838del (p.Asn612fs)
NM_000441.2(SLC26A4):c.1873G>T (p.Glu625Ter)
NM_000441.2(SLC26A4):c.1985G>A (p.Cys662Tyr) rs2129318278
NM_000441.2(SLC26A4):c.1991C>T (p.Ala664Val) rs2129318281
NM_000441.2(SLC26A4):c.2000T>C (p.Phe667Ser) rs121908360
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2027dup (p.Arg677fs)
NM_000441.2(SLC26A4):c.2028del (p.Arg677fs) rs2129318300
NM_000441.2(SLC26A4):c.2034+1G>T
NM_000441.2(SLC26A4):c.2035-8_2035-2del
NM_000441.2(SLC26A4):c.2039del (p.Val680fs) rs2129318784
NM_000441.2(SLC26A4):c.2074T>C (p.Phe692Leu) rs1399914687
NM_000441.2(SLC26A4):c.2106_2110dup (p.Glu704fs) rs1554362735
NM_000441.2(SLC26A4):c.2107C>G (p.Leu703Val) rs2129319905
NM_000441.2(SLC26A4):c.2108T>C (p.Leu703Pro) rs1584344549
NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)
NM_000441.2(SLC26A4):c.2116T>C (p.Cys706Arg)
NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter) rs142656144
NM_000441.2(SLC26A4):c.2127del (p.Phe709fs) rs786204523
NM_000441.2(SLC26A4):c.2128G>T (p.Asp710Tyr)
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.215T>A (p.Leu72Ter)
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs) rs1792142540
NM_000441.2(SLC26A4):c.2205_2206del (p.Gln736fs)
NM_000441.2(SLC26A4):c.221G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.2228T>A (p.Leu743Ter) rs1057517303
NM_000441.2(SLC26A4):c.2233del (p.Thr745fs)
NM_000441.2(SLC26A4):c.2235+2T>A
NM_000441.2(SLC26A4):c.226C>T (p.Pro76Ser) rs1554352676
NM_000441.2(SLC26A4):c.234C>G (p.Tyr78Ter)
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.248G>A (p.Trp83Ter)
NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter) rs1057516658
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.279T>A (p.Ser93Arg) rs2129309202
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.284G>A (p.Gly95Glu) rs2129309208
NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs) rs111033241
NM_000441.2(SLC26A4):c.296C>G (p.Thr99Arg) rs141142414
NM_000441.2(SLC26A4):c.304+2T>C rs746238617
NM_000441.2(SLC26A4):c.304+941C>T
NM_000441.2(SLC26A4):c.304G>A (p.Gly102Arg) rs1219724284
NM_000441.2(SLC26A4):c.305-1G>A rs1243584839
NM_000441.2(SLC26A4):c.317C>A (p.Ala106Asp) rs1562822565
NM_000441.2(SLC26A4):c.325G>C (p.Ala109Pro)
NM_000441.2(SLC26A4):c.327del (p.Ala110fs)
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.387del (p.Phe130fs) rs2129311265
NM_000441.2(SLC26A4):c.398C>A (p.Ser133Ter)
NM_000441.2(SLC26A4):c.3G>A (p.Met1Ile) rs786204426
NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu) rs111033199
NM_000441.2(SLC26A4):c.414del (p.Gly139fs)
NM_000441.2(SLC26A4):c.415+2T>C rs2129311282
NM_000441.2(SLC26A4):c.416-1G>A rs1057516988
NM_000441.2(SLC26A4):c.421T>C (p.Phe141Leu) rs2129311722
NM_000441.2(SLC26A4):c.477del (p.Glu159fs)
NM_000441.2(SLC26A4):c.502G>T (p.Gly168Ter)
NM_000441.2(SLC26A4):c.512T>G (p.Leu171Ter)
NM_000441.2(SLC26A4):c.574del (p.Ala191_Leu192insTer)
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_000441.2(SLC26A4):c.593_600+8del rs2129311772
NM_000441.2(SLC26A4):c.600+2T>A rs1057516881
NM_000441.2(SLC26A4):c.600+2T>C rs1057516881
NM_000441.2(SLC26A4):c.601-1G>A rs1554355011
NM_000441.2(SLC26A4):c.624_632delinsACTTGGC (p.Gly209fs) rs2129311939
NM_000441.2(SLC26A4):c.641A>G (p.Tyr214Cys) rs773861155
NM_000441.2(SLC26A4):c.642C>A (p.Tyr214Ter)
NM_000441.2(SLC26A4):c.667_669dup (p.Phe223dup) rs2129311948
NM_000441.2(SLC26A4):c.668T>C (p.Phe223Ser)
NM_000441.2(SLC26A4):c.679G>C (p.Ala227Pro)
NM_000441.2(SLC26A4):c.698_701del (p.Val233fs) rs2129311957
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.737del (p.Asn246fs) rs918684449
NM_000441.2(SLC26A4):c.750del (p.Leu251fs)
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro) rs1315422549
NM_000441.2(SLC26A4):c.765+4A>G
NM_000441.2(SLC26A4):c.765+4A>T rs774353111
NM_000441.2(SLC26A4):c.783dup (p.Gln262fs)
NM_000441.2(SLC26A4):c.798_799insTTCAATC (p.Thr267fs)
NM_000441.2(SLC26A4):c.79T>C (p.Tyr27His) rs2129308726
NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly) rs2129314461
NM_000441.2(SLC26A4):c.82A>G (p.Ser28Gly) rs1554352234
NM_000441.2(SLC26A4):c.890del (p.Pro297fs) rs786204600
NM_000441.2(SLC26A4):c.917_918dup (p.Thr307Ter)
NM_000441.2(SLC26A4):c.917del (p.Val306fs) rs1584317722
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_000441.2(SLC26A4):c.918+5G>A
NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter) rs1554357231
NM_000441.2(SLC26A4):c.965del (p.Asn322fs)
NM_000441.2(SLC26A4):c.969C>A (p.Tyr323Ter)
NM_000441.2(SLC26A4):c.983T>A (p.Val328Asp)
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs) rs431905486
NM_002241.5(KCNJ10):c.581C>A (p.Pro194His) rs137853073
NM_002241.5(KCNJ10):c.595C>T (p.Arg199Ter) rs137853067

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