ClinVar Miner

List of variants reported by ClinGen Hearing Loss Variant Curation Expert Panel

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ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777 0.79149
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_194248.3(OTOF):c.1723G>A (p.Val575Met) rs55676840 0.00781
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430 0.00378
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly) rs58257972 0.00343
NM_206933.4(USH2A):c.15297+3A>G rs57754754 0.00327
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135 0.00281
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu) rs35107075 0.00186
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_000441.2(SLC26A4):c.416-7T>C rs111033387 0.00178
NM_004086.3(COCH):c.841G>A (p.Asp281Asn) rs28362775 0.00176
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_194248.3(OTOF):c.4582G>A (p.Asp1528Asn) rs138151478 0.00168
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740 0.00166
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_194248.3(OTOF):c.4091G>T (p.Gly1364Val) rs138037294 0.00155
NM_016239.4(MYO15A):c.1111C>A (p.Pro371Thr) rs200382813 0.00153
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00149
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_206933.4(USH2A):c.14276G>A (p.Gly4759Glu) rs112459877 0.00122
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) rs199695398 0.00111
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00098
NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val) rs142284613 0.00081
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 0.00069
NM_206933.4(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333 0.00063
NM_004004.6(GJB2):c.167del (p.Leu56fs) rs80338942 0.00058
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004086.3(COCH):c.429A>G (p.Pro143=) rs147841606 0.00055
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg) rs372509310 0.00043
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396 0.00030
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423 0.00030
NM_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) rs200605472 0.00027
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_206933.4(USH2A):c.7167C>T (p.Ser2389=) rs200243588 0.00026
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe) rs111033199 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp) rs373276722 0.00016
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val) rs144562626 0.00011
NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met) rs150597240 0.00010
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln) rs782396605 0.00009
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_016239.4(MYO15A):c.4198G>A (p.Val1400Met) rs749136456 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_000260.4(MYO7A):c.631A>G (p.Ser211Gly) rs111033486 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00004
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_022124.6(CDH23):c.9566G>A (p.Arg3189Gln) rs727502936 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119 0.00003
NM_004004.6(GJB2):c.2T>C (p.Met1Thr) rs371086981 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_022124.6(CDH23):c.9565C>T (p.Arg3189Trp) rs121908353 0.00003
NM_206933.4(USH2A):c.11241C>A (p.Tyr3747Ter) rs777465132 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_000260.4(MYO7A):c.2904G>T (p.Glu968Asp) rs111033233 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240 0.00002
NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr) rs752812448 0.00002
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter) rs104894396 0.00002
NM_005422.4(TECTA):c.487-7C>G rs368627411 0.00002
NM_022124.6(CDH23):c.1515-12G>A rs369396703 0.00002
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_206933.4(USH2A):c.1859G>T (p.Cys620Phe) rs758571672 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr) rs111033257 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.563A>G (p.Lys188Arg) rs1131691709 0.00001
NM_004004.6(GJB2):c.583A>G (p.Met195Val) rs532203068 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 0.00001
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter) rs1345580310 0.00001
NM_016239.4(MYO15A):c.996C>G (p.Tyr332Ter) rs759523751 0.00001
NM_022124.6(CDH23):c.478G>A (p.Asp160Asn) rs1057519500 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.719C>T (p.Pro240Leu) rs121908354 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_206933.4(USH2A):c.2081G>A (p.Cys694Tyr) rs137954284 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.9433C>T (p.Leu3145Phe) rs267598373 0.00001
NM_000260.4(MYO7A):c.1183C>T (p.Arg395Cys) rs782279338
NM_000260.4(MYO7A):c.1817G>A (p.Arg606His) rs782311929
NM_000260.4(MYO7A):c.1849T>C (p.Ser617Pro) rs782063761
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys) rs1555090294
NM_000260.4(MYO7A):c.4115T>G (p.Val1372Gly) rs869312181
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.6560G>A (p.Gly2187Asp) rs397516332
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.516G>C (p.Trp172Cys) rs1302739538
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.674C>T (p.Pro225Leu) rs1555341782
NM_004004.6(GJB2):c.677T>A (p.Val226Asp) rs773846324
NM_004086.3(COCH):c.151C>T (p.Pro51Ser) rs28938175
NM_004086.3(COCH):c.355G>A (p.Ala119Thr) rs121908931
NM_004700.4(KCNQ4):c.720C>G (p.Thr240=) rs752131356
NM_004700.4(KCNQ4):c.803CCT[1] (p.Ser269del) rs797044966
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_007123.6(USH2A):c.4510dup (p.Arg1504fs) rs727503731
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1171_1177dup (p.Tyr393fs) rs1567620939
NM_016239.4(MYO15A):c.4176C>A (p.Tyr1392Ter) rs1199192203
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly) rs876657754
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter) rs80356590
NM_194248.3(OTOF):c.2215-1G>C
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
NM_194248.3(OTOF):c.5193-1G>A rs111033373
NM_206933.3(USH2A):c.12295-?_14133+?del
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.3407G>A (p.Ser1136Asn) rs483353055
NM_206933.4(USH2A):c.3547_3548del (p.Ile1183fs) rs397518013
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689

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