ClinVar Miner

List of variants in gene HARS1 reported as uncertain significance for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.(?_140059894_140070834del
NC_000005.9:g.140059894_140070834del
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys)
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln)
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln)
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys) rs1371763515
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu)
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728
NM_002109.6(HARS1):c.1069G>A (p.Val357Met)
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys) rs751272874
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn)
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys)
NM_002109.6(HARS1):c.115C>G (p.Leu39Val)
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly) rs1581503971
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp)
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161
NM_002109.6(HARS1):c.1194+4G>A rs370189312
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe)
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln)
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln)
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met)
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) rs201011416
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter)
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu)
NM_002109.6(HARS1):c.1311+4T>C rs958234389
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del)
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys) rs1204851184
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val)
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869
NM_002109.6(HARS1):c.1407G>C (p.Gln469His)
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg)
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn)
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu) rs1581500046
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala)
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn)
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter)
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln)
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala)
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val)
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg)
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe)
NM_002109.6(HARS1):c.159A>G (p.Lys53=)
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly)
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys)
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser) rs1581516557
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp)
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621
NM_002109.6(HARS1):c.235G>A (p.Val79Ile)
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter)
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg)
NM_002109.6(HARS1):c.2T>C (p.Met1Thr)
NM_002109.6(HARS1):c.349C>G (p.Leu117Val)
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr)
NM_002109.6(HARS1):c.363C>T (p.Gly121=)
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp)
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560
NM_002109.6(HARS1):c.383G>A (p.Arg128His)
NM_002109.6(HARS1):c.397-10_397-9del rs886060020
NM_002109.6(HARS1):c.407C>T (p.Ala136Val) rs1334234821
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp)
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln)
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg)
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys)
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.494G>A (p.Arg165His)
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr)
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798
NM_002109.6(HARS1):c.532A>G (p.Ile178Val)
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys)
NM_002109.6(HARS1):c.562G>C (p.Asp188His)
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys)
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe) rs762976181
NM_002109.6(HARS1):c.629_630+4del rs1562008713
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg)
NM_002109.6(HARS1):c.630+8C>G
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu) rs1562008284
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro)
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg)
NM_002109.6(HARS1):c.672_673del (p.Cys224fs)
NM_002109.6(HARS1):c.677T>A (p.Val226Asp)
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg)
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524
NM_002109.6(HARS1):c.695G>A (p.Arg232His)
NM_002109.6(HARS1):c.713T>C (p.Val238Ala)
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg)
NM_002109.6(HARS1):c.729+3A>G rs938453967
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr)
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys)
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu)
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu)
NM_002109.6(HARS1):c.811G>A (p.Val271Ile) rs149018062
NM_002109.6(HARS1):c.823+6G>C
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg)
NM_002109.6(HARS1):c.829G>A (p.Val277Ile)
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu)
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.90+3G>A
NM_002109.6(HARS1):c.90+4A>C
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr)
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe)
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del)
NM_002109.6(HARS1):c.981G>T (p.Gly327=)

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