ClinVar Miner

List of variants reported as pathogenic for Hearing impairment

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Total variants: 52
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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_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
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.617A>G (p.Asn206Ser) rs111033294 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg) rs104894397 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter) rs104894407 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His) rs371777049 0.00004
NM_004004.6(GJB2):c.298C>T (p.His100Tyr) rs143343083 0.00003
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_138691.3(TMC1):c.821C>T (p.Pro274Leu) rs755694066 0.00002
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_138691.3(TMC1):c.352G>T (p.Glu118Ter) rs1439351996 0.00001
NM_206933.4(USH2A):c.2168-1G>C rs748961218 0.00001
GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)
NM_000260.4(MYO7A):c.4442-1G>C rs1485456037
NM_000441.2(SLC26A4):c.1416G>A (p.Trp472Ter)
NM_001146079.2(CLDN14):c.254T>A (p.Val85Asp) rs74315437
NM_001256317.3(TMPRSS3):c.753G>C (p.Trp251Cys) rs137852999
NM_001292063.2(OTOG):c.1198C>T (p.Gln400Ter) rs2134007236
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr) rs587783645
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>C (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del) rs80338947
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.632_633del (p.Cys211fs) rs587783646
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004525.3(LRP2):c.7715+3A>T rs797045684
NM_004525.3(LRP2):c.8452_8452+1del
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
NM_173477.5(USH1G):c.854dup (p.Ala286fs) rs1567939718
NM_194248.3(OTOF):c.4483C>T (p.Arg1495Ter) rs147321712

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