ClinVar Miner

List of variants studied for perceptual disorders by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_001384474.1(LOXHD1):c.6599G>A (p.Arg2200Gln) rs148468627 0.00074
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser) rs117966637 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_005422.4(TECTA):c.5488G>A (p.Val1830Met) rs189181502 0.00011
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) rs201073816 0.00009
NM_194248.3(OTOF):c.4227+1G>T rs397515601 0.00009
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
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.439G>A (p.Glu147Lys) rs767178508 0.00004
NM_005982.4(SIX1):c.705G>T (p.Gln235His) rs747474509 0.00004
NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro) rs201660407 0.00003
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys) rs147952620 0.00002
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1614+1G>A rs111033312 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 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.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_001038603.3(MARVELD2):c.1331+1G>A rs762352115 0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter) rs1057516342 0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter) rs137853001 0.00001
NM_001384474.1(LOXHD1):c.944A>G (p.Lys315Arg) rs1279719056 0.00001
NM_002160.4(TNC):c.2340G>T (p.Glu780Asp) rs201169030 0.00001
NM_004700.4(KCNQ4):c.961G>A (p.Gly321Ser) rs28939710 0.00001
NM_016239.4(MYO15A):c.7633G>T (p.Asp2545Tyr) rs577721556 0.00001
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00001
NM_000260.4(MYO7A):c.1798-1G>T rs1555076948
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) rs1565455391
NM_000260.4(MYO7A):c.6237+1G>A rs1338605788
NM_000307.5(POU3F4):c.170G>A (p.Trp57Ter) rs1454033665
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter) rs1562835480
NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter) rs1284633493
NM_000441.2(SLC26A4):c.1340del (p.Lys447fs) rs1562835515
NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp) rs747076316
NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile) rs1057516953
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter) rs1569034190
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser) rs1569040134
NM_001128228.3(TPRN):c.1159G>T (p.Glu387Ter) rs1187168418
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) rs1564386891
NM_001145308.5(LRTOMT):c.384_385insCTCG (p.Glu129fs) rs1565331646
NM_001146079.2(CLDN14):c.694G>A (p.Gly232Arg) rs786204841
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) rs1559875009
NM_001256317.3(TMPRSS3):c.1048+1G>A rs1429442821
NM_001384140.1(PCDH15):c.2869-1G>T rs1554883705
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_005219.5(DIAPH1):c.2007G>T (p.Leu669Phe) rs1284785470
NM_005422.4(TECTA):c.29G>C (p.Trp10Ser) rs1591433475
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005797.4(MPZL2):c.3G>T (p.Met1Ile)
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005797.4(MPZL2):c.68del (p.Pro23fs)
NM_015404.4(WHRN):c.26C>A (p.Ser9Ter) rs776268964
NM_016239.4(MYO15A):c.1971G>A (p.Trp657Ter) rs1567623176
NM_016239.4(MYO15A):c.3233G>A (p.Trp1078Ter) rs866595552
NM_016239.4(MYO15A):c.4522G>T (p.Glu1508Ter) rs1567638693
NM_016239.4(MYO15A):c.4609G>T (p.Glu1537Ter) rs1555543432
NM_016239.4(MYO15A):c.477G>A (p.Trp159Ter) rs1567618790
NM_016239.4(MYO15A):c.5941G>T (p.Gly1981Trp) rs1240409145
NM_016239.4(MYO15A):c.605C>A (p.Pro202His) rs1229200252
NM_016239.4(MYO15A):c.6177+1G>T rs751142446
NM_016239.4(MYO15A):c.8088+1G>A rs773461233
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) rs766250454
NM_016239.4(MYO15A):c.9084-1G>T rs1567658906
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter) rs1564544199
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter) rs1564544348
NM_017433.5(MYO3A):c.2636-1G>T rs1564602202
NM_022124.6(CDH23):c.3579+1G>A rs1564759653
NM_022124.6(CDH23):c.5369-1G>T rs1564791773
NM_022124.6(CDH23):c.6067_6070dup (p.Gly2024fs) rs1564795354
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) rs1557659237
NM_133261.3(GIPC3):c.724G>T (p.Glu242Ter) rs1568278651
NM_138691.3(TMC1):c.2218G>T (p.Glu740Ter) rs1564583413
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1537del (p.Ala513fs)
NM_144672.4(OTOA):c.1765del (p.Gln589fs) rs775776282
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)
NM_153676.4(USH1C):c.2352_2353del (p.Val784_Tyr785insTer) rs1591961566
NM_153676.4(USH1C):c.2491-1G>T rs1565017125
NM_153700.2(STRC):c.4564G>T (p.Gly1522Ter) rs763904943
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter) rs1558489384
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554

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