ClinVar Miner

List of variants studied for autosomal recessive nonsyndromic hearing loss 29 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_001146079.2(CLDN14):c.-264G>C rs188733 0.34950
NM_001146079.2(CLDN14):c.-290A>G rs219742 0.34026
NM_001146079.2(CLDN14):c.243C>T (p.Arg81=) rs219779 0.25678
NM_001146079.2(CLDN14):c.687G>A (p.Thr229=) rs219780 0.20318
NM_001146079.2(CLDN14):c.-82+2024G>A rs73902533 0.06423
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met) rs113831133 0.04508
NM_001146079.2(CLDN14):c.*51G>A rs114551506 0.03325
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=) rs117560775 0.02306
NM_001146079.2(CLDN14):c.633C>T (p.Tyr211=) rs61745291 0.01969
NM_001146079.2(CLDN14):c.-297G>A rs140333712 0.00588
NM_001146079.2(CLDN14):c.621C>T (p.Thr207=) rs139437157 0.00444
NM_001146079.2(CLDN14):c.-242C>T rs78291168 0.00387
NM_001146079.2(CLDN14):c.*10G>C rs139628442 0.00336
NM_001146079.2(CLDN14):c.*48G>A rs199523516 0.00158
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364 0.00136
NM_001146079.2(CLDN14):c.-337C>G rs117804848 0.00117
NM_001146079.2(CLDN14):c.*107G>A rs112112443 0.00105
NM_001146079.2(CLDN14):c.-390G>A rs150344346 0.00078
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_001146079.2(CLDN14):c.-76C>T rs557122405 0.00047
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_001146079.2(CLDN14):c.-130G>A rs537704763 0.00032
NM_001146079.2(CLDN14):c.*66G>A rs369966830 0.00021
NM_001146079.2(CLDN14):c.-634G>A rs886057056 0.00019
NM_001146079.2(CLDN14):c.129C>T (p.Ala43=) rs150731625 0.00015
NM_001146079.2(CLDN14):c.-136G>A rs886057053 0.00010
NM_001146079.2(CLDN14):c.295G>A (p.Val99Ile) rs371106978 0.00010
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=) rs727502938 0.00008
NM_001146079.2(CLDN14):c.-426C>T rs994615490 0.00006
NM_001146079.2(CLDN14):c.-436G>A rs543253636 0.00006
NM_144492.2(CLDN14):c.*356T>C rs561126829 0.00006
NM_001146079.2(CLDN14):c.-5G>A rs368231049 0.00005
NM_001146079.2(CLDN14):c.-445G>A rs557217395 0.00003
NM_001146079.2(CLDN14):c.-46G>A rs779699092 0.00003
NM_001146079.2(CLDN14):c.-54G>A rs886057051 0.00003
NM_001146079.2(CLDN14):c.-82+2044A>C rs1430528784 0.00003
NM_001146079.2(CLDN14):c.522G>A (p.Ser174=) rs763846537 0.00003
NM_001146079.2(CLDN14):c.-492C>T rs886057055 0.00001
NM_001146079.2(CLDN14):c.18G>A (p.Val6=) rs387907417 0.00001
NM_001146079.2(CLDN14):c.535A>G (p.Thr179Ala) rs759597838 0.00001
NM_001146079.2(CLDN14):c.587C>T (p.Ala196Val) rs200651246 0.00001
NM_001146079.2(CLDN14):c.681G>A (p.Ser227=) rs763085148 0.00001
NM_001146079.2(CLDN14):c.*222T>C rs2086555750
NM_001146079.2(CLDN14):c.-187C>T rs886057054
NM_001146079.2(CLDN14):c.-531G>A rs372584176
NM_001146079.2(CLDN14):c.-645G>T rs886057057
NM_001146079.2(CLDN14):c.-75G>T rs537529014
NM_001146079.2(CLDN14):c.-82+9G>C rs886057052
NM_001146079.2(CLDN14):c.262T>C (p.Cys88Arg) rs756218341
NM_001146079.2(CLDN14):c.378C>G (p.Ile126Met) rs886057049
NM_001146079.2(CLDN14):c.450G>T (p.Pro150=) rs746102559
NM_001146079.2(CLDN14):c.513G>C (p.Ser171=) rs756847536
NM_001146079.2(CLDN14):c.578C>T (p.Pro193Leu) rs2086563574
NM_001146079.2(CLDN14):c.96G>C (p.Arg32Ser) rs886057050

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