ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Laboratory of Prof. Karen Avraham, Tel Aviv University

Included ClinVar conditions (249):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 213
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HGVS dbSNP gnomAD frequency
NM_153676.4(USH1C):c.403G>A (p.Val135Ile) rs145013633 0.00234
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_194248.3(OTOF):c.2374C>T (p.Arg792Trp) rs148532589 0.00143
NM_016366.3(CABP2):c.637+1G>T rs149712664 0.00102
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_001354587.1(ANKRD36):c.2479-1G>A rs200852589 0.00076
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_018429.3(BDP1):c.7873T>G (p.Ter2625Glu) rs199721728 0.00055
NM_004817.4(TJP2):c.2726C>T (p.Ala909Val) rs146761713 0.00028
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_002160.4(TNC):c.5317G>A (p.Val1773Met) rs137933052 0.00025
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_017433.5(MYO3A):c.1463G>A (p.Gly488Glu) rs145970949 0.00022
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser) rs367824632 0.00021
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_024009.3(GJB3):c.667C>A (p.Pro223Thr) rs373815705 0.00017
NM_000260.4(MYO7A):c.1801G>A (p.Ala601Thr) rs782481491 0.00014
NM_001145809.2(MYH14):c.526G>A (p.Ala176Thr) rs138001307 0.00014
NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val) rs200635365 0.00014
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter) rs111033260 0.00012
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237 0.00011
NM_001145809.2(MYH14):c.1067C>T (p.Thr356Met) rs151082668 0.00011
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198 0.00010
NM_001384140.1(PCDH15):c.1997C>T (p.Thr666Ile) rs146121822 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_173477.5(USH1G):c.955A>G (p.Arg319Gly) rs780717575 0.00007
NM_001145809.2(MYH14):c.4297G>A (p.Glu1433Lys) rs771755654 0.00006
NM_005219.5(DIAPH1):c.1364G>A (p.Arg455Gln) rs200004048 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_006005.3(WFS1):c.1549C>T (p.Arg517Cys) rs371911218 0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr) rs200775335 0.00006
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_001001331.4(ATP2B2):c.2953G>A (p.Ala985Thr) rs146069247 0.00005
NM_001384140.1(PCDH15):c.131T>C (p.Val44Ala) rs750302536 0.00005
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met) rs371671996 0.00005
NM_004208.4(AIFM1):c.893G>A (p.Arg298Gln) rs766786579 0.00005
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_000260.4(MYO7A):c.1619C>A (p.Pro540His) rs782607566 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_001039213.4(CEACAM16):c.703C>T (p.Arg235Cys) rs746164064 0.00004
NM_001384140.1(PCDH15):c.2214A>C (p.Gln738His) rs746610406 0.00004
NM_000441.2(SLC26A4):c.1545-7del rs727503427 0.00003
NM_004526.4(MCM2):c.2444G>A (p.Arg815His) rs779228557 0.00003
NM_000260.4(MYO7A):c.2371C>T (p.Arg791Cys) rs782165016 0.00002
NM_002473.6(MYH9):c.4352C>T (p.Ala1451Val) rs759107183 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_022124.6(CDH23):c.7903G>T (p.Val2635Phe) rs763721044 0.00002
NM_024009.3(GJB3):c.302G>A (p.Arg101Gln) rs765605645 0.00002
NM_138691.3(TMC1):c.1939T>C (p.Ser647Pro) rs138527651 0.00002
NM_000260.4(MYO7A):c.3475G>A (p.Gly1159Ser) rs568495838 0.00001
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_001039876.3(SYNE4):c.228_229del (p.Trp77fs) rs587777072 0.00001
NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg) rs534494159 0.00001
NM_001854.4(COL11A1):c.2231A>G (p.Lys744Arg) rs775660447 0.00001
NM_004004.6(GJB2):c.60T>G (p.Ile20Met) rs749693224 0.00001
NM_004700.4(KCNQ4):c.1664C>T (p.Pro555Leu) rs764622728 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr) rs753896285 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_006005.3(WFS1):c.2612T>G (p.Val871Gly) rs764211494 0.00001
NM_006005.3(WFS1):c.862G>A (p.Val288Met) rs71537685 0.00001
NM_016239.4(MYO15A):c.5141A>T (p.Lys1714Met) rs529797013 0.00001
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) rs878853228 0.00001
NM_016366.3(CABP2):c.232G>A (p.Glu78Lys) rs1391730624 0.00001
NM_022124.6(CDH23):c.1276C>T (p.Arg426Cys) rs373674747 0.00001
15q15.3 deletion
9q21.11 duplication
NC_000009.11:g.71705804_71974823invdup
NC_000009.12:g.69090066_69225446dup
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NM_000260.3(MYO7A):c.[1969C>T];[29T>C]
NM_000260.4(MYO7A):c.1969C>T (p.Arg657Trp) rs878853236
NM_000260.4(MYO7A):c.285+2T>G rs782292032
NM_000260.4(MYO7A):c.535A>G (p.Ser179Gly)
NM_000260.4(MYO7A):c.620A>G (p.Asn207Ser) rs878853235
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000307.5(POU3F4):c.191G>A (p.Gly64Glu)
NM_000307.5(POU3F4):c.235C>T (p.Gln79Ter) rs878853242
NM_000307.5(POU3F4):c.853_854del (p.Ile285fs) rs397516336
NM_000441.1(SLC26A4):c.[349C>T];[578C>T]
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs) rs397516413
NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs) rs1584331188
NM_000441.2(SLC26A4):c.424C>T (p.Pro142Ser) rs749325776
NM_001001331.4(ATP2B2):c.1033C>T (p.Gln345Ter) rs2061464108
NM_001001331.4(ATP2B2):c.1129A>C (p.Ser377Arg)
NM_001001331.4(ATP2B2):c.2336A>G (p.Asp779Gly)
NM_001001331.4(ATP2B2):c.3059G>A (p.Arg1020His)
NM_001001331.4(ATP2B2):c.3430G>A (p.Val1144Met)
NM_001039213.4(CEACAM16):c.1057G>A (p.Gly353Arg)
NM_001142966.3(GREB1L):c.5666G>A (p.Arg1889His)
NM_001145809.2(MYH14):c.1368C>G (p.Tyr456Ter)
NM_001145809.2(MYH14):c.587G>T (p.Cys196Phe)
NM_001145809.2(MYH14):c.659C>T (p.Ser220Leu)
NM_001145809.2(MYH14):c.693+1G>A
NM_001191057.4(PDE1C):c.1083-7T>C
NM_001191057.4(PDE1C):c.134G>A (p.Arg45Gln)
NM_001191057.4(PDE1C):c.1900C>T (p.Gln634Ter)
NM_001191057.4(PDE1C):c.2061C>A (p.Tyr687Ter)
NM_001191057.4(PDE1C):c.376C>G (p.Arg126Gly)
NM_001199107.2(TBC1D24):c.194G>T (p.Arg65Leu) rs878853232
NM_001371333.1(DIABLO):c.248_251del (p.Asp83fs)
NM_001371333.1(DIABLO):c.274A>G (p.Thr92Ala)
NM_001371333.1(DIABLO):c.718T>C (p.Ter240Arg)
NM_001375524.1(TRRAP):c.10307C>T (p.Thr3436Met)
NM_001375524.1(TRRAP):c.5791A>G (p.Met1931Val)
NM_001378457.1(DMXL2):c.1463C>T (p.Thr488Met)
NM_001378457.1(DMXL2):c.5093A>G (p.Asn1698Ser)
NM_001384474.1(LOXHD1):c.1856G>A (p.Arg619Gln)
NM_001384474.1(LOXHD1):c.46del (p.Leu16fs) rs1599083635
NM_001384474.1(LOXHD1):c.4714C>T (p.Arg1572Ter) rs75949023
NM_001384474.1(LOXHD1):c.6080dup (p.Gly2028fs) rs878853231
NM_001614.5(ACTG1):c.166G>A (p.Asp56Asn)
NM_001614.5(ACTG1):c.46A>C (p.Met16Leu)
NM_001614.5(ACTG1):c.56C>T (p.Ala19Val)
NM_001614.5(ACTG1):c.692C>T (p.Ala231Val)
NM_001854.4(COL11A1):c.1777G>A (p.Glu593Lys)
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.347T>C (p.Leu116Ser)
NM_001854.4(COL11A1):c.4113G>C (p.Glu1371Asp) rs2100925542
NM_001854.4(COL11A1):c.4356G>A (p.Lys1452=)
NM_002160.4(TNC):c.2447A>G (p.Asp816Gly)
NM_002160.4(TNC):c.2941G>A (p.Ala981Thr)
NM_002160.4(TNC):c.3047G>A (p.Arg1016His)
NM_002160.4(TNC):c.323G>A (p.Arg108His)
NM_002160.4(TNC):c.3295_3297delinsAAT (p.Gln1099Asn)
NM_002473.6(MYH9):c.2163T>G (p.Tyr721Ter)
NM_002473.6(MYH9):c.280G>A (p.Glu94Lys)
NM_002473.6(MYH9):c.3613C>A (p.Leu1205Met)
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004086.3(COCH):c.1115T>C (p.Ile372Thr) rs1594385065
NM_004086.3(COCH):c.1159C>T (p.Leu387Phe) rs878853226
NM_004100.5(EYA4):c.1720_1722delTACinsAAA rs1800334076
NM_004100.5(EYA4):c.1739-89_1739-85del rs1293390303
NM_004100.5(EYA4):c.441del (p.Tyr148fs) rs878853223
NM_004526.4(MCM2):c.1684C>T (p.Arg562Trp)
NM_004700.4(KCNQ4):c.1672G>A (p.Val558Met)
NM_004817.4(TJP2):c.2624T>C (p.Ile875Thr)
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) rs1775958137
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.1810T>A (p.Ser604Thr)
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_005219.5(DIAPH1):c.3469G>A (p.Glu1157Lys)
NM_005422.4(TECTA):c.1301G>T (p.Gly434Val)
NM_005422.4(TECTA):c.2614G>T (p.Ala872Ser)
NM_005422.4(TECTA):c.569C>T (p.Thr190Met)
NM_005422.4(TECTA):c.6017A>G (p.Asp2006Gly) rs878853224
NM_005982.4(SIX1):c.115G>A (p.Ala39Thr)
NM_005982.4(SIX1):c.175C>T (p.His59Tyr)
NM_005982.4(SIX1):c.353C>T (p.Pro118Leu)
NM_005982.4(SIX1):c.396G>C (p.Lys132Asn) rs1303947821
NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) rs368974927
NM_006005.3(WFS1):c.2021G>A (p.Gly674Glu)
NM_006005.3(WFS1):c.2315G>A (p.Arg772His) rs758646445
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met) rs201102144
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) rs74315205
NM_015205.3(ATP11A):c.3322_3327+2dup rs2140433062
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) rs2047052213
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.4660G>A (p.Ala1554Thr)
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) rs377385081
NM_016239.4(MYO15A):c.707A>G (p.Tyr236Cys) rs2045862543
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.7550C>G (p.Thr2517Ser) rs201119351
NM_016239.4(MYO15A):c.7745_8224+177delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.9083+6T>A rs1555547112
NM_017433.5(MYO3A):c.3126T>G (p.Tyr1042Ter)
NM_020982.4(CLDN9):c.346C>T (p.Arg116Cys)
NM_022124.6(CDH23):c.2863C>A (p.Arg955Ser) rs765094120
NM_022124.6(CDH23):c.6532A>T (p.Ile2178Phe)
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_024009.3(GJB3):c.101T>C (p.Leu34Pro) rs28937583
NM_033641.4(COL4A6):c.2230G>A (p.Gly744Ser)
NM_033641.4(COL4A6):c.511G>C (p.Gly171Arg)
NM_033641.4(COL4A6):c.[1384G>A;2230G>A]
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg) rs550153707
NM_080680.3(COL11A2):c.968dup (p.Ala324fs) rs1583366400
NM_138691.2(TMC1):c.[1165C>T];[1939T>C]
NM_138691.2(TMC1):c.[1210T>C];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[1939T>C]
NM_138691.2(TMC1):c.[1810C>T];[674C>T]
NM_138691.3(TMC1):c.15dup (p.Val6fs) rs878853229
NM_138691.3(TMC1):c.229del (p.Arg77fs) rs878853230
NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter)
NM_139319.3(SLC17A8):c.797T>C (p.Leu266Pro)
NM_144612.6(LOXHD1):c.[4480C>T];[4714C>T]
NM_153676.4(USH1C):c.38T>C (p.Val13Ala)
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.5185C>T (p.Arg1729Ter)
NM_153700.2(STRC):c.[4057C>T];[4171C>G]
NM_194248.2(OTOF):c.[4227+1G>T];[5193-1G>A]
NM_194248.3(OTOF):c.3863C>T (p.Ala1288Val)
NM_198999.3(SLC26A5):c.1487T>C (p.Leu496Pro)
NM_198999.3(SLC26A5):c.2125G>C (p.Ala709Pro)
NM_198999.3(SLC26A5):c.646G>A (p.Ala216Thr)
NM_206933.2(USH2A):c.[240_241insGTAC];[3368A>G]
NM_206933.4(USH2A):c.9685del (p.Glu3229fs) rs878853233

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