ClinVar Miner

List of variants in gene combination TBCEL-TECTA, TECTA reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
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.4633G>A (p.Val1545Ile) rs377156351 0.00024
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.6100G>A (p.Asp2034Asn) rs202092043 0.00021
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.4085G>A (p.Trp1362Ter) rs199638531 0.00011
NM_005422.4(TECTA):c.915C>T (p.Cys305=) rs367974065 0.00011
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005422.4(TECTA):c.5046C>T (p.Ile1682=) rs200367148 0.00009
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.1089G>T (p.Val363=) rs145913741 0.00006
NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys) rs139269834 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.762T>A (p.Ile254=) rs142743467 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.4965C>T (p.Gly1655=) rs200769761 0.00005
NM_005422.4(TECTA):c.5877G>C (p.Leu1959=) rs148742094 0.00005
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005422.4(TECTA):c.2327A>T (p.Gln776Leu) rs374863954 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.80T>C (p.Leu27Pro) rs373248083 0.00004
NM_005422.4(TECTA):c.1420C>T (p.Arg474Cys) rs756326790 0.00003
NM_005422.4(TECTA):c.3126G>A (p.Gly1042=) rs909980690 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.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.1699G>A (p.Ala567Thr) rs727503457 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.4384C>T (p.Arg1462Cys) rs727503462 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.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.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.880T>C (p.Cys294Arg) rs1352301200 0.00001
NM_005422.4(TECTA):c.1316T>C (p.Phe439Ser)
NM_005422.4(TECTA):c.140C>G (p.Ser47Cys)
NM_005422.4(TECTA):c.1472G>T (p.Arg491Leu) rs760011660
NM_005422.4(TECTA):c.1690C>T (p.Leu564Phe) rs2135078204
NM_005422.4(TECTA):c.1796G>C (p.Ser599Thr) rs762612501
NM_005422.4(TECTA):c.1905G>T (p.Gln635His) rs775145892
NM_005422.4(TECTA):c.2012G>A (p.Cys671Tyr) rs2135081400
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+6G>T rs555970010
NM_005422.4(TECTA):c.3132A>C (p.Gln1044His) rs886047839
NM_005422.4(TECTA):c.3156G>T (p.Trp1052Cys)
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.3760A>G (p.Met1254Val) rs886047841
NM_005422.4(TECTA):c.377C>T (p.Thr126Ile) rs1378716572
NM_005422.4(TECTA):c.3854G>C (p.Cys1285Ser) rs1060499597
NM_005422.4(TECTA):c.4061C>G (p.Thr1354Ser) rs148440178
NM_005422.4(TECTA):c.4402G>T (p.Glu1468Ter) rs1565532833
NM_005422.4(TECTA):c.4494C>A (p.Phe1498Leu) rs374996667
NM_005422.4(TECTA):c.458C>T (p.Thr153Met) rs1555121799
NM_005422.4(TECTA):c.4901T>C (p.Val1634Ala) rs1367267771
NM_005422.4(TECTA):c.4932C>A (p.Ser1644Arg) rs201375747
NM_005422.4(TECTA):c.493A>T (p.Thr165Ser)
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.5515G>A (p.Gly1839Ser)
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.5587-15C>G rs886047845
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.588C>T (p.Gly196=) rs886047836
NM_005422.4(TECTA):c.6150C>T (p.Tyr2050=) rs374455045
NM_005422.4(TECTA):c.761T>C (p.Ile254Thr) rs1946467660
NM_005422.4(TECTA):c.850C>T (p.Arg284Cys) rs1176214445

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.