ClinVar Miner

List of variants reported as pathogenic for auditory system disease by Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_000091.4(COL4A3):c.4882T>G (p.Ser1628Ala) rs773905198
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.918+1G>T rs111033245
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter)
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)
NM_016239.3(MYO15A):c.8183G>A rs184435771
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)
NM_024022.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) rs121908145
NM_153700.2:c.(?_1)_(5328_?)del
NM_153700.2:c.(?_3499)_(4993_?)del
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp)
NM_206933.4(USH2A):c.5776+1G>A rs876657731

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