ClinVar Miner

List of variants studied for perceptual disorders by ClinGen Hearing Loss Variant Curation Expert Panel

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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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_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_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_194248.3(OTOF):c.1580-6C>T rs114260271 0.00309
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_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_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_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_016239.4(MYO15A):c.1582G>A (p.Gly528Ser) rs199695398 0.00111
NM_004086.3(COCH):c.629+5C>T rs202109231 0.00110
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
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_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_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
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_016239.4(MYO15A):c.9998G>A (p.Arg3333Gln) rs200605472 0.00027
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
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_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_000260.4(MYO7A):c.3862G>C (p.Ala1288Pro) rs749747871 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_004004.6(GJB2):c.107T>C (p.Leu36Pro) rs587783644 0.00004
NM_004004.6(GJB2):c.1A>G (p.Met1Val) rs111033293 0.00004
NM_016239.4(MYO15A):c.9517+2T>C rs1322423998 0.00004
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter) rs80356593 0.00004
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_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
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.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 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_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 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.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_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_004004.6(GJB2):c.1A>T (p.Met1Leu) rs111033293
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.2T>G (p.Met1Arg) rs371086981
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.3G>A (p.Met1Ile)
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.585G>C (p.Met195Ile) rs570552952
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_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.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_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116

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