ClinVar Miner

List of variants reported as pathogenic for autosomal recessive disease by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_138691.3(TMC1):c.100C>T (p.Arg34Ter) rs121908073 0.00006
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_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_000260.4(MYO7A):c.2115C>A (p.Cys705Ter) rs782255281 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.2086C>T (p.Gln696Ter) rs752807925 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 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_206933.4(USH2A):c.3309C>A (p.Tyr1103Ter) rs397518011 0.00001
NM_000260.4(MYO7A):c.3576G>A (p.Trp1192Ter) rs1253943370
NM_000260.4(MYO7A):c.4439C>A (p.Ser1480Ter) rs1565455391
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
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.1520del (p.Leu506_Leu507insTer) rs786204601
NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs) rs746427774
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter) rs111033380
NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter) rs1569042693
NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter) rs1569046250
NM_001128228.3(TPRN):c.53G>A (p.Trp18Ter) rs1564386891
NM_001199799.2(ILDR1):c.643G>T (p.Glu215Ter) rs1559875009
NM_001256317.3(TMPRSS3):c.1048+1G>A rs1429442821
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_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
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.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.605C>A (p.Pro202His) rs1229200252
NM_016239.4(MYO15A):c.8524G>T (p.Glu2842Ter) rs766250454
NM_017433.5(MYO3A):c.1684A>T (p.Arg562Ter) rs1564544199
NM_017433.5(MYO3A):c.1732G>T (p.Glu578Ter) rs1564544348
NM_022124.6(CDH23):c.3579+1G>A rs1564759653
NM_022124.6(CDH23):c.5369-1G>T rs1564791773
NM_024009.3(GJB3):c.8G>A (p.Trp3Ter) rs1557659237
NM_032119.4(ADGRV1):c.16114G>T (p.Glu5372Ter) rs377650415
NM_032119.4(ADGRV1):c.17200G>T (p.Glu5734Ter) rs1561843914
NM_032119.4(ADGRV1):c.2320G>T (p.Gly774Ter) rs1561441451
NM_032119.4(ADGRV1):c.7885G>T (p.Gly2629Ter) rs1561543496
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.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.2491-1G>T rs1565017125
NM_173477.5(USH1G):c.1060G>T (p.Asp354Tyr) rs1316299165
NM_194248.3(OTOF):c.1801G>T (p.Glu601Ter) rs1558489384
NM_194248.3(OTOF):c.2989G>T (p.Glu997Ter) rs1558482554

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