ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 21

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Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn) rs526433 0.99235
NM_005422.4(TECTA):c.1485A>G (p.Ala495=) rs536069 0.76077
NM_005422.4(TECTA):c.2805T>C (p.Tyr935=) rs586473 0.73877
NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly) rs612969 0.48670
NM_005422.4(TECTA):c.5272+26A>G rs662496 0.47584
NM_005422.4(TECTA):c.4098G>A (p.Thr1366=) rs12275038 0.28426
NM_005422.4(TECTA):c.4105+13C>T rs7130952 0.26144
NM_005422.4(TECTA):c.2256C>T (p.Ile752=) rs10502247 0.25910
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala) rs520805 0.20376
NM_005422.4(TECTA):c.5634C>T (p.Ser1878=) rs2155369 0.10906
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg) rs35507522 0.03926
NM_005422.4(TECTA):c.624+11C>G rs73599492 0.03810
NM_005422.4(TECTA):c.5733T>G (p.Val1911=) rs516678 0.03205
NM_005422.4(TECTA):c.4422C>T (p.Asn1474=) rs33981325 0.02261
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=) rs61291716 0.02153
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131 0.02137
NM_005422.4(TECTA):c.4533C>T (p.Phe1511=) rs77628498 0.01098
NM_005422.4(TECTA):c.5383+3G>A rs73583199 0.01071
NM_005422.4(TECTA):c.6250+4T>C rs143302176 0.00811
NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu) rs142948530 0.00672
NM_005422.4(TECTA):c.790+12C>T rs138644808 0.00563
NM_005422.4(TECTA):c.2781T>C (p.His927=) rs142903119 0.00395
NM_005422.4(TECTA):c.972G>C (p.Val324=) rs147790742 0.00271
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_005422.4(TECTA):c.2061C>G (p.Asn687Lys) rs139165033 0.00171
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=) rs144012985 0.00138
NM_005422.4(TECTA):c.2418G>A (p.Leu806=) rs138185038 0.00133
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val) rs147354818 0.00123
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile) rs149001418 0.00104
NM_005422.4(TECTA):c.1002C>T (p.Asp334=) rs35282525 0.00090
NM_005422.4(TECTA):c.2367+9C>T rs368080945 0.00079
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser) rs146175803 0.00061
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=) rs138477419 0.00057
NM_005422.4(TECTA):c.1509C>T (p.Cys503=) rs61733565 0.00050
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_005422.4(TECTA):c.552C>T (p.Tyr184=) rs148364865 0.00032
NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His) rs144343770 0.00032
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005422.4(TECTA):c.3743C>T (p.Pro1248Leu) rs138768918 0.00029
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_005422.4(TECTA):c.4315C>A (p.Leu1439Ile) rs202199158 0.00026
NM_005422.4(TECTA):c.1461A>G (p.Gly487=) rs202127508 0.00024
NM_005422.4(TECTA):c.2700G>A (p.Ser900=) rs375406423 0.00024
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_005422.4(TECTA):c.2945T>C (p.Leu982Pro) rs141616288 0.00021
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00021
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950 0.00018
NM_005422.4(TECTA):c.4061C>T (p.Thr1354Ile) rs148440178 0.00017
NM_005422.4(TECTA):c.420T>C (p.Ser140=) rs141090151 0.00016
NM_005422.4(TECTA):c.5586+12A>G rs199723136 0.00016
NM_005422.4(TECTA):c.33C>A (p.Val11=) rs140393508 0.00015
NM_005422.4(TECTA):c.4813G>A (p.Val1605Ile) rs201952240 0.00014
NM_005422.4(TECTA):c.6136G>A (p.Asp2046Asn) rs769561057 0.00014
NM_005422.4(TECTA):c.4317A>C (p.Leu1439=) rs146742726 0.00013
NM_005422.4(TECTA):c.762T>A (p.Ile254=) rs142743467 0.00013
NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005422.4(TECTA):c.248C>T (p.Thr83Met) rs145898158 0.00009
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His) rs150016625 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
NM_005422.4(TECTA):c.65-14A>G rs201171064 0.00009
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met) rs186780639 0.00008
NM_005422.4(TECTA):c.2184C>T (p.Ser728=) rs148638616 0.00007
NM_005422.4(TECTA):c.4481T>C (p.Val1494Ala) rs200544452 0.00007
NM_005422.4(TECTA):c.6458C>T (p.Thr2153Met) rs146965680 0.00007
NM_005422.4(TECTA):c.1089G>T (p.Val363=) rs145913741 0.00006
NM_005422.4(TECTA):c.1621G>A (p.Val541Met) rs370652301 0.00006
NM_005422.4(TECTA):c.3216C>T (p.Cys1072=) rs760328639 0.00006
NM_005422.4(TECTA):c.4594G>A (p.Asp1532Asn) rs199809873 0.00006
NM_005422.4(TECTA):c.5743A>C (p.Met1915Leu) rs749089815 0.00006
NM_005422.4(TECTA):c.6135C>T (p.Cys2045=) rs139552118 0.00006
NM_005422.4(TECTA):c.2077G>A (p.Gly693Arg) rs200502160 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.2586C>G (p.Leu862=) rs374347076 0.00005
NM_005422.4(TECTA):c.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_005422.4(TECTA):c.5877G>C (p.Leu1959=) rs148742094 0.00005
NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) rs374863954 0.00004
NM_005422.4(TECTA):c.2643C>T (p.Phe881=) rs544376595 0.00004
NM_005422.4(TECTA):c.5091G>A (p.Met1697Ile) rs200028435 0.00004
NM_005422.4(TECTA):c.5142C>T (p.Tyr1714=) rs151087951 0.00004
NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920 0.00004
NM_005422.4(TECTA):c.80T>C (p.Leu27Pro) rs373248083 0.00004
NM_005422.4(TECTA):c.1420C>T (p.Arg474Cys) rs756326790 0.00003
NM_005422.4(TECTA):c.1794G>C (p.Pro598=) rs570667892 0.00003
NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) rs909980690 0.00003
NM_005422.4(TECTA):c.3750T>C (p.Asp1250=) rs372087934 0.00003
NM_005422.4(TECTA):c.4205G>C (p.Cys1402Ser) rs774697277 0.00003
NM_005422.4(TECTA):c.4441A>G (p.Ser1481Gly) rs201946991 0.00003
NM_005422.4(TECTA):c.5808C>T (p.Leu1936=) rs377039794 0.00003
NM_005422.4(TECTA):c.5878T>C (p.Tyr1960His) rs370139221 0.00003
NM_005422.4(TECTA):c.851G>A (p.Arg284His) rs886047837 0.00003
NM_005422.4(TECTA):c.2071G>A (p.Gly691Ser) rs755227541 0.00002
NM_005422.4(TECTA):c.4295A>G (p.Lys1432Arg) rs530918606 0.00002
NM_005422.4(TECTA):c.4842G>C (p.Leu1614=) rs371071499 0.00002
NM_005422.4(TECTA):c.1143C>G (p.Leu381=) rs369118145 0.00001
NM_005422.4(TECTA):c.1356C>T (p.Ser452=) rs763431691 0.00001
NM_005422.4(TECTA):c.1498G>A (p.Asp500Asn) rs754964995 0.00001
NM_005422.4(TECTA):c.2409G>A (p.Ser803=) rs778543447 0.00001
NM_005422.4(TECTA):c.2674C>A (p.Leu892Met) rs748088048 0.00001
NM_005422.4(TECTA):c.2835G>A (p.Gln945=) rs371290564 0.00001
NM_005422.4(TECTA):c.2876G>A (p.Arg959Gln) rs150403193 0.00001
NM_005422.4(TECTA):c.3138C>T (p.Ala1046=) rs886047840 0.00001
NM_005422.4(TECTA):c.3619G>A (p.Val1207Met) rs746231346 0.00001
NM_005422.4(TECTA):c.3769G>A (p.Gly1257Ser) rs727504469 0.00001
NM_005422.4(TECTA):c.4168G>A (p.Ala1390Thr) rs1481202790 0.00001
NM_005422.4(TECTA):c.4289A>G (p.Asp1430Gly) rs770316975 0.00001
NM_005422.4(TECTA):c.4337C>G (p.Thr1446Arg) rs72998913 0.00001
NM_005422.4(TECTA):c.4977-12C>T rs886047843 0.00001
NM_005422.4(TECTA):c.5114A>G (p.Tyr1705Cys) rs886047844 0.00001
NM_005422.4(TECTA):c.5205C>T (p.Ala1735=) rs762504147 0.00001
NM_005422.4(TECTA):c.5260A>G (p.Lys1754Glu) rs1312695280 0.00001
NM_005422.4(TECTA):c.5362G>A (p.Glu1788Lys) rs1370738313 0.00001
NM_005422.4(TECTA):c.5550C>G (p.Ile1850Met) rs775852521 0.00001
NM_005422.4(TECTA):c.5597C>T (p.Thr1866Met) rs140236996 0.00001
NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr) rs202079138 0.00001
NM_005422.4(TECTA):c.5913A>T (p.Thr1971=) rs200655923 0.00001
NM_005422.4(TECTA):c.6069C>T (p.His2023=) rs759915442 0.00001
NM_005422.4(TECTA):c.6103G>A (p.Glu2035Lys) rs267602733 0.00001
NM_005422.4(TECTA):c.6301C>T (p.Arg2101Trp) rs746566852 0.00001
NM_005422.4(TECTA):c.805C>G (p.Arg269Gly) rs777704329 0.00001
NM_005422.4(TECTA):c.880T>C (p.Cys294Arg) rs1352301200 0.00001
NM_005422.4(TECTA):c.1247_1248del (p.Gly416fs) rs773573968
NM_005422.4(TECTA):c.1705C>T (p.Gln569Ter) rs1946605498
NM_005422.4(TECTA):c.1756C>T (p.Arg586Ter)
NM_005422.4(TECTA):c.1779C>T (p.Ser593=)
NM_005422.4(TECTA):c.1905G>T (p.Gln635His) rs775145892
NM_005422.4(TECTA):c.2101G>A (p.Gly701Ser)
NM_005422.4(TECTA):c.211G>A (p.Gly71Arg)
NM_005422.4(TECTA):c.2175C>T (p.Asp725=) rs865971914
NM_005422.4(TECTA):c.2179G>C (p.Ala727Pro) rs759694570
NM_005422.4(TECTA):c.2222A>G (p.Lys741Arg) rs1946634411
NM_005422.4(TECTA):c.2367+2T>C
NM_005422.4(TECTA):c.2367+6G>T rs555970010
NM_005422.4(TECTA):c.2458A>T (p.Lys820Ter)
NM_005422.4(TECTA):c.2614G>T (p.Ala872Ser)
NM_005422.4(TECTA):c.2736C>A (p.Cys912Ter) rs368050948
NM_005422.4(TECTA):c.286G>C (p.Val96Leu)
NM_005422.4(TECTA):c.2889C>A (p.Ala963=) rs1946659418
NM_005422.4(TECTA):c.2900C>A (p.Ala967Glu) rs199688655
NM_005422.4(TECTA):c.3132A>C (p.Gln1044His) rs886047839
NM_005422.4(TECTA):c.3520C>T (p.Arg1174Ter)
NM_005422.4(TECTA):c.3558G>T (p.Arg1186=) rs766364285
NM_005422.4(TECTA):c.3575A>C (p.Lys1192Thr) rs777712974
NM_005422.4(TECTA):c.36T>G (p.Ser12=) rs2135046516
NM_005422.4(TECTA):c.3760A>G (p.Met1254Val) rs886047841
NM_005422.4(TECTA):c.377C>T (p.Thr126Ile) rs1378716572
NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser) rs148440178
NM_005422.4(TECTA):c.4224C>A (p.Cys1408Ter)
NM_005422.4(TECTA):c.4857C>A (p.Cys1619Ter) rs764153521
NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) rs1367267771
NM_005422.4(TECTA):c.528T>C (p.Tyr176=) rs747324937
NM_005422.4(TECTA):c.533T>G (p.Phe178Cys) rs886047835
NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met) rs544020042
NM_005422.4(TECTA):c.5537T>G (p.Ile1846Ser)
NM_005422.4(TECTA):c.5577C>T (p.Asn1859=) rs370609249
NM_005422.4(TECTA):c.5583G>T (p.Val1861=) rs753786546
NM_005422.4(TECTA):c.5586+40C>G rs2186747
NM_005422.4(TECTA):c.5587-15C>G rs886047845
NM_005422.4(TECTA):c.5741C>G (p.Pro1914Arg)
NM_005422.4(TECTA):c.5770C>A (p.Pro1924Thr) rs886047846
NM_005422.4(TECTA):c.5829A>G (p.Lys1943=) rs879251219
NM_005422.4(TECTA):c.5866C>T (p.Arg1956Ter) rs1565536400
NM_005422.4(TECTA):c.588C>T (p.Gly196=) rs886047836
NM_005422.4(TECTA):c.6103G>T (p.Glu2035Ter) rs267602733
NM_005422.4(TECTA):c.6150C>A (p.Tyr2050Ter)
NM_005422.4(TECTA):c.6150C>T (p.Tyr2050=) rs374455045
NM_005422.4(TECTA):c.6162+5G>A rs1565541888
NM_005422.4(TECTA):c.840_841insT (p.Val281fs) rs1565519673
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445
NM_005422.4(TECTA):c.90A>T (p.Pro30=) rs577470721

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