ClinVar Miner

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

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991 0.00146
NM_017433.5(MYO3A):c.170A>C (p.Asp57Ala) rs146511800 0.00094
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140 0.00089
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_022124.6(CDH23):c.8311G>A (p.Gly2771Ser) rs201076440 0.00039
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848 0.00035
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser) rs113446173 0.00030
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_012188.5(FOXI1):c.92A>G (p.Tyr31Cys) rs777573595 0.00012
NM_001080476.3(GRXCR1):c.439C>T (p.Arg147Cys) rs569193097 0.00009
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys) rs139805921 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_022124.6(CDH23):c.5734C>T (p.Arg1912Trp) rs397517344 0.00008
NM_001384474.1(LOXHD1):c.3061+1G>A rs537227442 0.00006
NM_006005.3(WFS1):c.1316T>G (p.Phe439Cys) rs141585847 0.00006
NM_001384474.1(LOXHD1):c.2314A>T (p.Ile772Phe) rs1289895910 0.00004
NM_000266.4(NDP):c.269G>A (p.Arg90His) rs104894867 0.00003
NM_001146079.2(CLDN14):c.89G>A (p.Trp30Ter) rs1273842424 0.00003
NM_001384474.1(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157 0.00003
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp) rs28942097 0.00002
NM_001128840.3(CACNA1D):c.1116+2T>C rs747136766 0.00001
NM_001146079.2(CLDN14):c.242G>A (p.Arg81His) rs368027306 0.00001
NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs) rs397517376 0.00001
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_004086.3(COCH):c.538C>T (p.Arg180Ter) rs559481815 0.00001
NM_005422.4(TECTA):c.2367G>A (p.Lys789=) rs1448260319 0.00001
NM_016239.4(MYO15A):c.2677C>T (p.Arg893Ter) rs763075073 0.00001
NM_016239.4(MYO15A):c.4039A>T (p.Ile1347Phe) rs375627187 0.00001
NM_194248.3(OTOF):c.2719C>T (p.Gln907Ter) rs1249447410 0.00001
NM_194248.3(OTOF):c.5203C>T (p.Arg1735Trp) rs1172714485 0.00001
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754 0.00001
NM_000260.4(MYO7A):c.1211G>A (p.Gly404Glu) rs973746837
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_001002295.2(GATA3):c.153dup (p.Asn52Ter) rs2131482893
NM_001038603.3(MARVELD2):c.1331+2T>C rs772048719
NM_001038603.3(MARVELD2):c.880_890del (p.Phe294fs) rs770042200
NM_001039141.3(TRIOBP):c.4436del (p.Gly1479fs) rs756145453
NM_001042517.2(DIAPH3):c.2266-2A>G rs1593949468
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter) rs1064797177
NM_001256317.3(TMPRSS3):c.208del (p.His70fs) rs727503493
NM_001256317.3(TMPRSS3):c.965C>A (p.Pro322His) rs2146430688
NM_001292063.2(OTOG):c.1451G>T (p.Cys484Phe) rs1051388148
NM_001378454.1(ALMS1):c.3G>A (p.Met1Ile) rs2104056063
NM_001384474.1(LOXHD1):c.1904T>C (p.Leu635Pro) rs1051629865
NM_001384474.1(LOXHD1):c.5330del (p.Asn1777fs) rs776345911
NM_001384474.1(LOXHD1):c.5907T>A (p.Tyr1969Ter) rs1598827506
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_002700.3(POU4F3):c.545C>G (p.Ser182Ter) rs1284441535
NM_004004.6(GJB2):c.313_326del (p.Lys105fs) rs111033253
NM_004004.6(GJB2):c.35dup (p.Val13fs) rs80338939
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004100.5(EYA4):c.1463dup (p.Glu490fs) rs2128782580
NM_004700.4(KCNQ4):c.1251del (p.Cys418fs) rs2148324207
NM_004999.4(MYO6):c.2397C>A (p.Cys799Ter) rs2149347766
NM_004999.4(MYO6):c.866_869del (p.Lys289fs) rs749752357
NM_005219.5(DIAPH1):c.3268dup (p.Met1090fs) rs1235751512
NM_005422.4(TECTA):c.2359del (p.Glu787fs) rs1057519150
NM_005422.4(TECTA):c.2785del (p.Val929fs) rs34851638
NM_014332.3(SMPX):c.140del (p.Pro47fs) rs2147387122
NM_016239.4(MYO15A):c.2873del (p.Pro958fs) rs1217492313
NM_016239.4(MYO15A):c.4240G>A (p.Glu1414Lys) rs1060499798
NM_016239.4(MYO15A):c.9620G>T (p.Arg3207Leu) rs199621031
NM_022124.6(CDH23):c.3215C>A (p.Ala1072Asp) rs2132751525
NM_022124.6(CDH23):c.833G>A (p.Gly278Glu) rs1861130719
NM_032119.4(ADGRV1):c.1477C>T (p.Arg493Ter) rs779948710
NM_032119.4(ADGRV1):c.16368G>C (p.Lys5456Asn) rs2150302151
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln) rs281874743
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_174878.3(CLRN1):c.2T>C (p.Met1Thr) rs1553776135
NM_182548.4(LHFPL5):c.504C>G (p.Tyr168Ter) rs1389821363

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