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

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622	0.00966
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224	0.00354
NM_000441.1(SLC26A4):c.-103T>C	rs60284988	0.00209
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)	rs80338945	0.00066
NM_000441.2(SLC26A4):c.1001+1G>A	rs80338849	0.00029
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_004004.6(GJB2):c.-23+1G>A	rs80338940	0.00017
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)	rs104894398	0.00013
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His)	rs184435771	0.00011
NM_006383.4(CIB2):c.196C>T (p.Arg66Trp)	rs780168150	0.00003
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396	0.00002
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn)	rs767270134	0.00001
NM_206933.4(USH2A):c.5776+1G>A	rs876657731	0.00001
NM_000091.5(COL4A3):c.4882T>G (p.Ser1628Ala)	rs773905198
NM_000260.4(MYO7A):c.4442-1G>C	rs1485456037
NM_000441.2(SLC26A4):c.703C>T (p.Gln235Ter)	rs2129311961
NM_000441.2(SLC26A4):c.918+1G>T	rs111033245
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys)	rs137852999
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)	rs756120041
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs)	rs769260536
NM_057176.3(BSND):c.10G>T (p.Glu4Ter)	rs121908145
NM_153700.2:c.(?_1)_(5328_?)del
NM_153700.2:c.(?_3499)_(4993_?)del

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