ClinVar Miner

List of variants studied for Usher syndrome type 3B

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 550
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.1458+7G>A rs58302597 0.18812
NM_002109.6(HARS1):c.588C>T (p.Cys196=) rs2230361 0.07468
NM_002109.6(HARS1):c.951+19G>A rs73271581 0.03048
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_002109.6(HARS1):c.1127A>G (p.Lys376Arg) rs139447495 0.00513
NM_002109.6(HARS1):c.1196C>T (p.Ala399Val) rs34732372 0.00428
NM_002109.6(HARS1):c.181-15G>C rs184748736 0.00405
NM_002109.6(HARS1):c.1261C>G (p.Leu421Val) rs34790864 0.00375
NM_002109.6(HARS1):c.614G>A (p.Gly205Asp) rs147288996 0.00272
NM_002109.6(HARS1):c.730-17G>A rs189624055 0.00096
NM_002109.6(HARS1):c.234C>T (p.Asp78=) rs142994969 0.00065
NM_002109.6(HARS1):c.72G>A (p.Gln24=) rs148516171 0.00054
NM_002109.6(HARS1):c.396+20C>T rs191205977 0.00036
NM_002109.6(HARS1):c.40C>A (p.Gln14Lys) rs117579809 0.00034
NM_002109.6(HARS1):c.903C>T (p.Asp301=) rs146835587 0.00034
NM_002109.6(HARS1):c.477T>C (p.Asp159=) rs750113259 0.00033
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560 0.00031
NM_002109.6(HARS1):c.653A>G (p.Asp218Gly) rs374172904 0.00027
NM_002109.6(HARS1):c.852C>T (p.Leu284=) rs202034204 0.00025
NM_002109.6(HARS1):c.1372G>A (p.Ala458Thr) rs891844407 0.00014
NM_002109.6(HARS1):c.1402G>A (p.Glu468Lys) rs199615869 0.00014
NM_002109.6(HARS1):c.1484T>C (p.Val495Ala) rs138377835 0.00013
NM_002109.6(HARS1):c.679T>G (p.Ser227Ala) rs768076848 0.00013
NM_002109.6(HARS1):c.103G>A (p.Val35Met) rs144588417 0.00012
NM_002109.6(HARS1):c.952-3C>A rs373032755 0.00011
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002109.6(HARS1):c.1110C>T (p.Phe370=) rs761267344 0.00009
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002109.6(HARS1):c.615C>T (p.Gly205=) rs371470801 0.00009
NM_002109.6(HARS1):c.397-11T>G rs763198737 0.00007
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg) rs769535360 0.00007
NM_002109.6(HARS1):c.91-17C>A rs373242229 0.00007
NM_002109.6(HARS1):c.1312-8C>T rs772505507 0.00006
NM_002109.6(HARS1):c.1452G>A (p.Arg484=) rs149283940 0.00006
NM_002109.6(HARS1):c.203G>A (p.Arg68Gln) rs753788498 0.00006
NM_002109.6(HARS1):c.52G>A (p.Val18Met) rs774632798 0.00006
NM_002109.6(HARS1):c.522+17C>T rs201107108 0.00005
NM_002109.6(HARS1):c.622C>T (p.Leu208=) rs754094386 0.00005
NM_002109.6(HARS1):c.100G>C (p.Glu34Gln) rs377739193 0.00004
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728 0.00004
NM_002109.6(HARS1):c.1124G>A (p.Arg375His) rs151258227 0.00004
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852 0.00004
NM_002109.6(HARS1):c.1194+13A>G rs201733468 0.00004
NM_002109.6(HARS1):c.1194+20T>C rs750746864 0.00004
NM_002109.6(HARS1):c.1195-18T>C rs777231572 0.00004
NM_002109.6(HARS1):c.1221G>A (p.Thr407=) rs150274370 0.00004
NM_002109.6(HARS1):c.494G>A (p.Arg165His) rs373522589 0.00004
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524 0.00004
NM_002109.6(HARS1):c.800T>C (p.Ile267Thr) rs766324898 0.00004
NM_002109.6(HARS1):c.819A>G (p.Gln273=) rs372436915 0.00004
NM_002109.6(HARS1):c.88C>A (p.Leu30Met) rs1247070065 0.00004
NM_002109.6(HARS1):c.1086C>T (p.Arg362=) rs139251223 0.00003
NM_002109.6(HARS1):c.1105A>G (p.Met369Val) rs749991162 0.00003
NM_002109.6(HARS1):c.1213C>A (p.Arg405=) rs908109064 0.00003
NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn) rs369070016 0.00003
NM_002109.6(HARS1):c.1369G>A (p.Glu457Lys) rs1204851184 0.00003
NM_002109.6(HARS1):c.1446G>A (p.Thr482=) rs756452677 0.00003
NM_002109.6(HARS1):c.1462G>A (p.Asp488Asn) rs771603866 0.00003
NM_002109.6(HARS1):c.218G>A (p.Arg73His) rs767325912 0.00003
NM_002109.6(HARS1):c.445C>T (p.Arg149Cys) rs138035024 0.00003
NM_002109.6(HARS1):c.527T>A (p.Phe176Tyr) rs745780898 0.00003
NM_002109.6(HARS1):c.695G>A (p.Arg232His) rs550778711 0.00003
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763 0.00003
NM_002109.6(HARS1):c.941T>C (p.Ile314Thr) rs777214329 0.00003
NM_002109.6(HARS1):c.951+18C>T rs775714094 0.00003
NM_002109.6(HARS1):c.951+5G>T rs1473283139 0.00003
NM_002109.6(HARS1):c.1084C>T (p.Arg362Cys) rs751272874 0.00002
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373 0.00002
NM_002109.6(HARS1):c.1194+15G>T rs766705218 0.00002
NM_002109.6(HARS1):c.1220C>T (p.Thr407Met) rs760726168 0.00002
NM_002109.6(HARS1):c.1228C>T (p.Gln410Ter) rs201011416 0.00002
NM_002109.6(HARS1):c.1399G>A (p.Gly467Ser) rs372237777 0.00002
NM_002109.6(HARS1):c.1442T>C (p.Val481Ala) rs376596538 0.00002
NM_002109.6(HARS1):c.1468C>T (p.Arg490Ter) rs373709175 0.00002
NM_002109.6(HARS1):c.220G>A (p.Glu74Lys) rs774017621 0.00002
NM_002109.6(HARS1):c.383G>A (p.Arg128His) rs748062451 0.00002
NM_002109.6(HARS1):c.472C>T (p.Arg158Trp) rs939538495 0.00002
NM_002109.6(HARS1):c.585G>C (p.Met195Ile) rs777238077 0.00002
NM_002109.6(HARS1):c.631-19A>G rs779220042 0.00002
NM_002109.6(HARS1):c.637G>A (p.Asp213Asn) rs759634200 0.00002
NM_002109.6(HARS1):c.669C>T (p.Ile223=) rs761474865 0.00002
NM_002109.6(HARS1):c.956C>T (p.Ser319Phe) rs910919096 0.00002
NM_002109.6(HARS1):c.1031C>A (p.Pro344Gln) rs146571500 0.00001
NM_002109.6(HARS1):c.1069G>A (p.Val357Met) rs1210579780 0.00001
NM_002109.6(HARS1):c.1092T>C (p.Asp364=) rs758121959 0.00001
NM_002109.6(HARS1):c.1129G>T (p.Val377Leu) rs1236403537 0.00001
NM_002109.6(HARS1):c.1156G>A (p.Val386Met) rs766493535 0.00001
NM_002109.6(HARS1):c.115C>T (p.Leu39=) rs201729757 0.00001
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp) rs761949872 0.00001
NM_002109.6(HARS1):c.1176C>T (p.Ile392=) rs373400844 0.00001
NM_002109.6(HARS1):c.1177G>A (p.Val393Met) rs192923161 0.00001
NM_002109.6(HARS1):c.1194+4G>A rs370189312 0.00001
NM_002109.6(HARS1):c.1195-1G>A rs1758289022 0.00001
NM_002109.6(HARS1):c.1201G>A (p.Glu401Lys) rs552434037 0.00001
NM_002109.6(HARS1):c.1227A>C (p.Thr409=) rs771913914 0.00001
NM_002109.6(HARS1):c.1311+4T>C rs958234389 0.00001
NM_002109.6(HARS1):c.1323G>A (p.Leu441=) rs1411849883 0.00001
NM_002109.6(HARS1):c.132G>A (p.Gln44=) rs748645783 0.00001
NM_002109.6(HARS1):c.1387G>A (p.Val463Met) rs139699964 0.00001
NM_002109.6(HARS1):c.1393A>G (p.Ile465Val) rs754304255 0.00001
NM_002109.6(HARS1):c.1398C>T (p.Ile466=) rs766088180 0.00001
NM_002109.6(HARS1):c.1407G>C (p.Gln469His) rs1405966952 0.00001
NM_002109.6(HARS1):c.1410A>G (p.Glu470=) rs764911936 0.00001
NM_002109.6(HARS1):c.1490A>C (p.Glu497Ala) rs1758219575 0.00001
NM_002109.6(HARS1):c.1519T>C (p.Cys507Arg) rs150090766 0.00001
NM_002109.6(HARS1):c.1519T>G (p.Cys507Gly) rs150090766 0.00001
NM_002109.6(HARS1):c.1526G>T (p.Cys509Phe) rs1255236125 0.00001
NM_002109.6(HARS1):c.155A>C (p.Gln52Pro) rs201398055 0.00001
NM_002109.6(HARS1):c.165G>A (p.Val55=) rs780352804 0.00001
NM_002109.6(HARS1):c.174C>T (p.Thr58=) rs761695061 0.00001
NM_002109.6(HARS1):c.17C>G (p.Ala6Gly) rs1461976080 0.00001
NM_002109.6(HARS1):c.188G>A (p.Arg63Lys) rs1758827286 0.00001
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp) rs757279674 0.00001
NM_002109.6(HARS1):c.205C>A (p.Gln69Lys) rs906500515 0.00001
NM_002109.6(HARS1):c.235G>A (p.Val79Ile) rs1247876038 0.00001
NM_002109.6(HARS1):c.244C>T (p.Arg82Cys) rs769340873 0.00001
NM_002109.6(HARS1):c.245G>A (p.Arg82His) rs747494880 0.00001
NM_002109.6(HARS1):c.256C>T (p.Arg86Cys) rs775758650 0.00001
NM_002109.6(HARS1):c.257G>A (p.Arg86His) rs555242163 0.00001
NM_002109.6(HARS1):c.262G>A (p.Gly88Ser) rs574448668 0.00001
NM_002109.6(HARS1):c.296T>G (p.Leu99Arg) rs1758818266 0.00001
NM_002109.6(HARS1):c.300+15A>G rs1217420965 0.00001
NM_002109.6(HARS1):c.301-13A>G rs370697844 0.00001
NM_002109.6(HARS1):c.307C>G (p.Leu103Val) rs556459899 0.00001
NM_002109.6(HARS1):c.335A>G (p.Lys112Arg) rs746177150 0.00001
NM_002109.6(HARS1):c.363C>T (p.Gly121=) rs372293095 0.00001
NM_002109.6(HARS1):c.364G>A (p.Gly122Arg) rs749493279 0.00001
NM_002109.6(HARS1):c.39T>G (p.Leu13=) rs1453807986 0.00001
NM_002109.6(HARS1):c.409C>T (p.Arg137Trp) rs1408800953 0.00001
NM_002109.6(HARS1):c.431T>A (p.Leu144Gln) rs1408195908 0.00001
NM_002109.6(HARS1):c.437A>G (p.Asn146Ser) rs781115846 0.00001
NM_002109.6(HARS1):c.493C>T (p.Arg165Cys) rs760132903 0.00001
NM_002109.6(HARS1):c.501A>T (p.Arg167=) rs763249148 0.00001
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln) rs146922029 0.00001
NM_002109.6(HARS1):c.522+1G>A rs375271566 0.00001
NM_002109.6(HARS1):c.522+8T>C rs1408058796 0.00001
NM_002109.6(HARS1):c.532A>G (p.Ile178Val) rs774329929 0.00001
NM_002109.6(HARS1):c.61C>T (p.Leu21Phe) rs762976181 0.00001
NM_002109.6(HARS1):c.630+12C>T rs760967356 0.00001
NM_002109.6(HARS1):c.631-8C>T rs551153305 0.00001
NM_002109.6(HARS1):c.650T>C (p.Leu217Pro) rs762921085 0.00001
NM_002109.6(HARS1):c.713T>C (p.Val238Ala) rs536175170 0.00001
NM_002109.6(HARS1):c.726C>T (p.Asp242=) rs1131035 0.00001
NM_002109.6(HARS1):c.728A>G (p.Lys243Arg) rs1053173778 0.00001
NM_002109.6(HARS1):c.729+12A>G rs756500012 0.00001
NM_002109.6(HARS1):c.729+3A>G rs938453967 0.00001
NM_002109.6(HARS1):c.749A>G (p.Lys250Arg) rs1758445064 0.00001
NM_002109.6(HARS1):c.782C>G (p.Pro261Arg) rs1319398620 0.00001
NM_002109.6(HARS1):c.789G>A (p.Val263=) rs780017796 0.00001
NM_002109.6(HARS1):c.796C>T (p.Arg266Cys) rs575673293 0.00001
NM_002109.6(HARS1):c.811G>A (p.Val271Ile) rs149018062 0.00001
NM_002109.6(HARS1):c.829G>A (p.Val277Ile) rs763899763 0.00001
NM_002109.6(HARS1):c.880C>G (p.Gln294Glu) rs1379178692 0.00001
NM_002109.6(HARS1):c.881A>C (p.Gln294Pro) rs1758417980 0.00001
NM_002109.6(HARS1):c.90+14A>C rs779580751 0.00001
NM_002109.6(HARS1):c.90+16C>T rs757866174 0.00001
NM_002109.6(HARS1):c.90+4A>C rs776405841 0.00001
NM_002109.6(HARS1):c.907A>C (p.Lys303Gln) rs774041144 0.00001
NM_002109.6(HARS1):c.933A>G (p.Leu311=) rs762443953 0.00001
NM_002109.6(HARS1):c.93C>G (p.Ile31Met) rs768408406 0.00001
NM_002109.6(HARS1):c.951+8A>C rs761161172 0.00001
NM_002109.6(HARS1):c.965del (p.Leu322fs) rs774824253 0.00001
NC_000005.10:g.(?_140676634)_(140678035_?)del
NC_000005.10:g.(?_140679002)_(140683219_?)dup
NC_000005.9:g.(?_140052489)_(140072312_?)del
NC_000005.9:g.(?_140056219)_(140059488_?)del
NC_000005.9:g.(?_140058567)_(140062824_?)dup
NC_000005.9:g.(?_140059894)_(140070834_?)del
NC_000005.9:g.140059894_140070834del
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
NM_002109.6(HARS1):c.1004T>C (p.Ile335Thr)
NM_002109.6(HARS1):c.1007A>G (p.Tyr336Cys) rs2149823058
NM_002109.6(HARS1):c.1008T>C (p.Tyr336=)
NM_002109.6(HARS1):c.1009G>A (p.Glu337Lys) rs1370029240
NM_002109.6(HARS1):c.1009G>T (p.Glu337Ter) rs1370029240
NM_002109.6(HARS1):c.101A>T (p.Glu34Val)
NM_002109.6(HARS1):c.1028C>T (p.Thr343Ile) rs1562005331
NM_002109.6(HARS1):c.1029C>T (p.Thr343=)
NM_002109.6(HARS1):c.1034C>A (p.Ala345Asp)
NM_002109.6(HARS1):c.1039G>A (p.Ala347Thr)
NM_002109.6(HARS1):c.103G>T (p.Val35Leu)
NM_002109.6(HARS1):c.1040C>T (p.Ala347Val)
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys) rs1371763515
NM_002109.6(HARS1):c.1047A>G (p.Glu349=) rs1581504369
NM_002109.6(HARS1):c.1048G>T (p.Glu350Ter)
NM_002109.6(HARS1):c.104T>C (p.Val35Ala) rs1581532058
NM_002109.6(HARS1):c.1052C>T (p.Pro351Leu) rs1758395666
NM_002109.6(HARS1):c.1053C>G (p.Pro351=) rs1435212159
NM_002109.6(HARS1):c.1055T>G (p.Leu352Arg)
NM_002109.6(HARS1):c.1056G>A (p.Leu352=) rs1758394745
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)
NM_002109.6(HARS1):c.105G>A (p.Val35=) rs2149845187
NM_002109.6(HARS1):c.1061_1062del (p.Val354fs)
NM_002109.6(HARS1):c.1075G>T (p.Ala359Ser) rs1562005042
NM_002109.6(HARS1):c.1076C>A (p.Ala359Asp) rs1313670595
NM_002109.6(HARS1):c.1088A>G (p.Tyr363Cys) rs1402131324
NM_002109.6(HARS1):c.108G>A (p.Ala36=)
NM_002109.6(HARS1):c.1090G>C (p.Asp364His)
NM_002109.6(HARS1):c.1093G>A (p.Gly365Arg)
NM_002109.6(HARS1):c.1106T>C (p.Met369Thr) rs764631385
NM_002109.6(HARS1):c.1111G>A (p.Asp371Asn) rs753104645
NM_002109.6(HARS1):c.1118A>G (p.Lys373Arg)
NM_002109.6(HARS1):c.1131del (p.Pro378fs) rs2149822729
NM_002109.6(HARS1):c.1136G>A (p.Cys379Tyr) rs1758384765
NM_002109.6(HARS1):c.1143G>A (p.Gly381=)
NM_002109.6(HARS1):c.1150A>G (p.Ile384Val)
NM_002109.6(HARS1):c.1150A>T (p.Ile384Phe)
NM_002109.6(HARS1):c.1151T>A (p.Ile384Asn) rs1758381320
NM_002109.6(HARS1):c.1152dup (p.Gly385fs)
NM_002109.6(HARS1):c.1158G>T (p.Val386=) rs2149822667
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys) rs1758380241
NM_002109.6(HARS1):c.115C>A (p.Leu39Met)
NM_002109.6(HARS1):c.115C>G (p.Leu39Val) rs201729757
NM_002109.6(HARS1):c.1160A>G (p.Glu387Gly) rs1581503971
NM_002109.6(HARS1):c.1170C>A (p.Phe390Leu)
NM_002109.6(HARS1):c.1185G>A (p.Gln395=)
NM_002109.6(HARS1):c.1185G>C (p.Gln395His) rs546882914
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly) rs2149822607
NM_002109.6(HARS1):c.1191del (p.Glu398fs)
NM_002109.6(HARS1):c.1194+18G>A rs988352231
NM_002109.6(HARS1):c.1195-14T>A
NM_002109.6(HARS1):c.1195-21_1195-18del
NM_002109.6(HARS1):c.1195-9_1195-8delinsTA
NM_002109.6(HARS1):c.1195G>T (p.Ala399Ser)
NM_002109.6(HARS1):c.1200G>T (p.Leu400Phe) rs1758288242
NM_002109.6(HARS1):c.1201G>C (p.Glu401Gln) rs552434037
NM_002109.6(HARS1):c.1213C>T (p.Arg405Trp) rs908109064
NM_002109.6(HARS1):c.1214G>A (p.Arg405Gln) rs147185134
NM_002109.6(HARS1):c.1214G>C (p.Arg405Pro)
NM_002109.6(HARS1):c.1225A>G (p.Thr409Ala)
NM_002109.6(HARS1):c.1234C>G (p.Leu412Val)
NM_002109.6(HARS1):c.1249C>T (p.Gln417Ter) rs866572603
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255A>C (p.Lys419Gln)
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu) rs1758283199
NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)
NM_002109.6(HARS1):c.1258C>G (p.Leu420Val)
NM_002109.6(HARS1):c.1260G>A (p.Leu420=)
NM_002109.6(HARS1):c.1271G>A (p.Arg424Lys)
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)
NM_002109.6(HARS1):c.1311+10G>A
NM_002109.6(HARS1):c.1311+19A>C
NM_002109.6(HARS1):c.1311+19A>G
NM_002109.6(HARS1):c.1311+7G>A
NM_002109.6(HARS1):c.1311+8A>C
NM_002109.6(HARS1):c.1311+8A>T
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA rs2149819821
NM_002109.6(HARS1):c.1312-11G>A
NM_002109.6(HARS1):c.1312-14C>G
NM_002109.6(HARS1):c.1312-1G>A
NM_002109.6(HARS1):c.1326C>T (p.Tyr442=) rs2149819731
NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)
NM_002109.6(HARS1):c.1329GAA[1] (p.Lys444del) rs756193571
NM_002109.6(HARS1):c.1344A>G (p.Leu448=) rs1758261367
NM_002109.6(HARS1):c.1356A>G (p.Leu452=)
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg) rs2149819642
NM_002109.6(HARS1):c.1362C>T (p.Tyr454=)
NM_002109.6(HARS1):c.137G>A (p.Gly46Asp)
NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu) rs754304255
NM_002109.6(HARS1):c.1396A>G (p.Ile466Val)
NM_002109.6(HARS1):c.1401C>G (p.Gly467=)
NM_002109.6(HARS1):c.1406A>C (p.Gln469Pro)
NM_002109.6(HARS1):c.1414A>G (p.Lys472Glu)
NM_002109.6(HARS1):c.1420G>A (p.Gly474Arg) rs971012132
NM_002109.6(HARS1):c.1429A>G (p.Lys477Glu) rs2149819440
NM_002109.6(HARS1):c.142G>A (p.Asp48Asn) rs1759376273
NM_002109.6(HARS1):c.1433T>G (p.Leu478Arg) rs1024985302
NM_002109.6(HARS1):c.1435C>T (p.Arg479Cys) rs768174431
NM_002109.6(HARS1):c.1436G>A (p.Arg479His)
NM_002109.6(HARS1):c.1439C>T (p.Ser480Leu) rs1581500046
NM_002109.6(HARS1):c.143A>G (p.Asp48Gly)
NM_002109.6(HARS1):c.1445C>G (p.Thr482Arg) rs147372931
NM_002109.6(HARS1):c.1445C>T (p.Thr482Met) rs147372931
NM_002109.6(HARS1):c.1447A>G (p.Ser483Gly) rs2149819356
NM_002109.6(HARS1):c.1448G>A (p.Ser483Asn) rs2149819348
NM_002109.6(HARS1):c.1453G>A (p.Glu485Lys)
NM_002109.6(HARS1):c.1458+17G>A rs1758248338
NM_002109.6(HARS1):c.1459-16C>T
NM_002109.6(HARS1):c.1459-17_1459-15del
NM_002109.6(HARS1):c.1459-1G>C rs1300317175
NM_002109.6(HARS1):c.1459G>A (p.Val487Met)
NM_002109.6(HARS1):c.145G>A (p.Glu49Lys)
NM_002109.6(HARS1):c.1461G>A (p.Val487=) rs931036155
NM_002109.6(HARS1):c.1469G>A (p.Arg490Gln) rs1295541335
NM_002109.6(HARS1):c.1479C>G (p.Asp493Glu)
NM_002109.6(HARS1):c.1479C>T (p.Asp493=) rs1366581698
NM_002109.6(HARS1):c.1486G>C (p.Glu496Gln)
NM_002109.6(HARS1):c.148A>C (p.Ser50Arg)
NM_002109.6(HARS1):c.1492A>G (p.Ile498Val) rs2149818483
NM_002109.6(HARS1):c.1495A>T (p.Lys499Ter)
NM_002109.6(HARS1):c.1499G>A (p.Arg500Lys)
NM_002109.6(HARS1):c.149G>A (p.Ser50Asn)
NM_002109.6(HARS1):c.1505_1506dup (p.Gly503fs)
NM_002109.6(HARS1):c.1508G>T (p.Gly503Val) rs781414119
NM_002109.6(HARS1):c.1510C>T (p.Gln504Ter) rs2149818394
NM_002109.6(HARS1):c.1512G>T (p.Gln504His)
NM_002109.6(HARS1):c.1513C>T (p.Pro505Ser)
NM_002109.6(HARS1):c.1516dup (p.Leu506fs)
NM_002109.6(HARS1):c.159A>G (p.Lys53=) rs1759375118
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)
NM_002109.6(HARS1):c.172A>G (p.Thr58Ala)
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
NM_002109.6(HARS1):c.174C>A (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.174C>G (p.Thr58=) rs761695061
NM_002109.6(HARS1):c.175C>T (p.Pro59Ser) rs1759373051
NM_002109.6(HARS1):c.177C>T (p.Pro59=) rs2149844924
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)
NM_002109.6(HARS1):c.180+10T>C
NM_002109.6(HARS1):c.180+12C>T
NM_002109.6(HARS1):c.180+16T>G rs2149844870
NM_002109.6(HARS1):c.180+18G>A
NM_002109.6(HARS1):c.180+18G>C
NM_002109.6(HARS1):c.180+20G>C
NM_002109.6(HARS1):c.180+4A>T rs2149844902
NM_002109.6(HARS1):c.180+8C>A rs1759371863
NM_002109.6(HARS1):c.180G>A (p.Lys60=)
NM_002109.6(HARS1):c.181-16T>C
NM_002109.6(HARS1):c.181-8A>C rs2149832909
NM_002109.6(HARS1):c.189A>G (p.Arg63=)
NM_002109.6(HARS1):c.192_198delinsACTG (p.Asp64_Ser66delinsGluLeu)
NM_002109.6(HARS1):c.199C>T (p.Pro67Ser) rs1581516557
NM_002109.6(HARS1):c.200C>T (p.Pro67Leu) rs1758824887
NM_002109.6(HARS1):c.205C>T (p.Gln69Ter) rs906500515
NM_002109.6(HARS1):c.207G>C (p.Gln69His) rs1758823982
NM_002109.6(HARS1):c.210G>A (p.Met70Ile)
NM_002109.6(HARS1):c.217C>T (p.Arg73Cys)
NM_002109.6(HARS1):c.223_225del (p.Lys75del) rs1185763867
NM_002109.6(HARS1):c.228G>A (p.Val76=)
NM_002109.6(HARS1):c.241A>G (p.Ile81Val)
NM_002109.6(HARS1):c.241A>T (p.Ile81Phe)
NM_002109.6(HARS1):c.245G>C (p.Arg82Pro)
NM_002109.6(HARS1):c.24G>A (p.Glu8=)
NM_002109.6(HARS1):c.261C>G (p.His87Gln)
NM_002109.6(HARS1):c.261C>T (p.His87=)
NM_002109.6(HARS1):c.261_267del (p.His87fs)
NM_002109.6(HARS1):c.280A>G (p.Thr94Ala)
NM_002109.6(HARS1):c.286G>A (p.Val96Ile) rs1758818774
NM_002109.6(HARS1):c.286_287delinsTA (p.Val96Ter) rs1758818618
NM_002109.6(HARS1):c.28C>G (p.Leu10Val)
NM_002109.6(HARS1):c.28C>T (p.Leu10=)
NM_002109.6(HARS1):c.2T>C (p.Met1Thr) rs1759420438
NM_002109.6(HARS1):c.300+138G>A rs2530239
NM_002109.6(HARS1):c.300+138G>C
NM_002109.6(HARS1):c.300+4del
NM_002109.6(HARS1):c.300+6G>A
NM_002109.6(HARS1):c.300+9T>C
NM_002109.6(HARS1):c.300G>A (p.Lys100=)
NM_002109.6(HARS1):c.301-12T>C
NM_002109.6(HARS1):c.317A>G (p.Lys106Arg) rs1281935760
NM_002109.6(HARS1):c.31G>T (p.Val11Leu)
NM_002109.6(HARS1):c.325dup (p.Glu109fs)
NM_002109.6(HARS1):c.349C>G (p.Leu117Val) rs1758613182
NM_002109.6(HARS1):c.352_375del (p.Lys118_Leu125del) rs2149827873
NM_002109.6(HARS1):c.355G>T (p.Asp119Tyr) rs1758612647
NM_002109.6(HARS1):c.364G>T (p.Gly122Trp) rs749493279
NM_002109.6(HARS1):c.368A>C (p.Glu123Ala) rs2149827896
NM_002109.6(HARS1):c.369G>T (p.Glu123Asp) rs2149827889
NM_002109.6(HARS1):c.370C>T (p.Leu124Phe)
NM_002109.6(HARS1):c.386A>G (p.Tyr129Cys)
NM_002109.6(HARS1):c.388G>A (p.Asp130Asn)
NM_002109.6(HARS1):c.390C>T (p.Asp130=) rs754863405
NM_002109.6(HARS1):c.391C>T (p.Leu131Phe)
NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)
NM_002109.6(HARS1):c.396+14C>T rs1319381924
NM_002109.6(HARS1):c.396+9C>T
NM_002109.6(HARS1):c.397-10T>C
NM_002109.6(HARS1):c.397-12C>G rs2149826975
NM_002109.6(HARS1):c.397-8G>C
NM_002109.6(HARS1):c.398T>A (p.Val133Asp) rs2149826951
NM_002109.6(HARS1):c.398T>C (p.Val133Ala)
NM_002109.6(HARS1):c.401C>G (p.Pro134Arg) rs863225122
NM_002109.6(HARS1):c.407C>T (p.Ala136Val) rs1334234821
NM_002109.6(HARS1):c.423G>T (p.Met141Ile)
NM_002109.6(HARS1):c.42G>A (p.Gln14=)
NM_002109.6(HARS1):c.437_439dup (p.Asn146dup) rs755088410
NM_002109.6(HARS1):c.43G>A (p.Gly15Arg) rs1394473077
NM_002109.6(HARS1):c.440T>C (p.Ile147Thr)
NM_002109.6(HARS1):c.443_444dup (p.Arg149fs)
NM_002109.6(HARS1):c.454A>G (p.Ile152Val)
NM_002109.6(HARS1):c.457G>T (p.Ala153Ser) rs746887565
NM_002109.6(HARS1):c.464T>G (p.Val155Gly) rs1239341211
NM_002109.6(HARS1):c.465A>G (p.Val155=) rs1202503765
NM_002109.6(HARS1):c.465A>T (p.Val155=)
NM_002109.6(HARS1):c.467A>G (p.Tyr156Cys)
NM_002109.6(HARS1):c.473G>A (p.Arg158Gln) rs1274278544
NM_002109.6(HARS1):c.480C>T (p.Asn160=)
NM_002109.6(HARS1):c.485C>T (p.Ala162Val)
NM_002109.6(HARS1):c.489G>A (p.Met163Ile)
NM_002109.6(HARS1):c.490A>T (p.Thr164Ser)
NM_002109.6(HARS1):c.495T>G (p.Arg165=)
NM_002109.6(HARS1):c.4G>A (p.Ala2Thr) rs1759420210
NM_002109.6(HARS1):c.4del (p.Ala2fs)
NM_002109.6(HARS1):c.500G>A (p.Arg167Gln)
NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)
NM_002109.6(HARS1):c.507G>A (p.Arg169=) rs2149826709
NM_002109.6(HARS1):c.507G>C (p.Arg169=)
NM_002109.6(HARS1):c.50G>T (p.Arg17Leu)
NM_002109.6(HARS1):c.510A>G (p.Glu170=)
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)
NM_002109.6(HARS1):c.519G>A (p.Gln173=) rs1131045
NM_002109.6(HARS1):c.522+18G>A
NM_002109.6(HARS1):c.523-13C>A
NM_002109.6(HARS1):c.523-18C>T
NM_002109.6(HARS1):c.523-20G>A
NM_002109.6(HARS1):c.523-4G>A
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys) rs1758491184
NM_002109.6(HARS1):c.552C>T (p.Pro184=)
NM_002109.6(HARS1):c.553A>G (p.Met185Val)
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)
NM_002109.6(HARS1):c.561T>C (p.Pro187=) rs2149825285
NM_002109.6(HARS1):c.562G>C (p.Asp188His) rs1758489449
NM_002109.6(HARS1):c.581T>C (p.Ile194Thr) rs1758488093
NM_002109.6(HARS1):c.584T>C (p.Met195Thr) rs2149825219
NM_002109.6(HARS1):c.589G>A (p.Glu197Lys) rs747711899
NM_002109.6(HARS1):c.589G>C (p.Glu197Gln)
NM_002109.6(HARS1):c.58G>A (p.Gly20Ser)
NM_002109.6(HARS1):c.602C>G (p.Ser201Ter) rs780654800
NM_002109.6(HARS1):c.611T>C (p.Ile204Thr)
NM_002109.6(HARS1):c.612A>G (p.Ile204Met) rs1562008815
NM_002109.6(HARS1):c.616G>A (p.Asp206Asn)
NM_002109.6(HARS1):c.627C>T (p.Val209=) rs960026937
NM_002109.6(HARS1):c.62T>G (p.Leu21Arg) rs1759411593
NM_002109.6(HARS1):c.630+6A>G
NM_002109.6(HARS1):c.630+7G>A
NM_002109.6(HARS1):c.630+8C>G rs1021221934
NM_002109.6(HARS1):c.630+8C>T
NM_002109.6(HARS1):c.631-13T>C rs754213668
NM_002109.6(HARS1):c.631-18T>G
NM_002109.6(HARS1):c.631-3C>A
NM_002109.6(HARS1):c.631-3C>T rs533067917
NM_002109.6(HARS1):c.631-9T>G rs2149824827
NM_002109.6(HARS1):c.636C>T (p.Asn212=)
NM_002109.6(HARS1):c.637G>T (p.Asp213Tyr)
NM_002109.6(HARS1):c.639T>G (p.Asp213Glu) rs1562008284
NM_002109.6(HARS1):c.640C>A (p.Arg214=)
NM_002109.6(HARS1):c.640C>T (p.Arg214Ter)
NM_002109.6(HARS1):c.643C>T (p.Arg215Cys)
NM_002109.6(HARS1):c.654T>C (p.Asp218=)
NM_002109.6(HARS1):c.660G>A (p.Met220Ile)
NM_002109.6(HARS1):c.662T>C (p.Phe221Ser) rs2149824713
NM_002109.6(HARS1):c.664G>A (p.Ala222Thr)
NM_002109.6(HARS1):c.672_673del (p.Cys224fs) rs1758469143
NM_002109.6(HARS1):c.677T>A (p.Val226Asp) rs1758468780
NM_002109.6(HARS1):c.684C>A (p.Asp228Glu)
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg) rs1416014791
NM_002109.6(HARS1):c.690G>A (p.Lys230=) rs768157379
NM_002109.6(HARS1):c.693C>G (p.Phe231Leu)
NM_002109.6(HARS1):c.695G>T (p.Arg232Leu)
NM_002109.6(HARS1):c.697A>G (p.Thr233Ala)
NM_002109.6(HARS1):c.706T>C (p.Ser236Pro)
NM_002109.6(HARS1):c.714A>G (p.Val238=)
NM_002109.6(HARS1):c.721C>T (p.Leu241=)
NM_002109.6(HARS1):c.723G>A (p.Leu241=) rs1131036
NM_002109.6(HARS1):c.729+10C>T
NM_002109.6(HARS1):c.729+15A>T
NM_002109.6(HARS1):c.729+16C>T
NM_002109.6(HARS1):c.729+20A>G
NM_002109.6(HARS1):c.730-10G>A
NM_002109.6(HARS1):c.730-10G>C rs1581505929
NM_002109.6(HARS1):c.730-12C>G rs2149824191
NM_002109.6(HARS1):c.730-16G>T
NM_002109.6(HARS1):c.730-20A>G
NM_002109.6(HARS1):c.730-2A>G
NM_002109.6(HARS1):c.730G>A (p.Val244Met)
NM_002109.6(HARS1):c.732G>T (p.Val244=)
NM_002109.6(HARS1):c.747G>A (p.Val249=)
NM_002109.6(HARS1):c.74A>G (p.Lys25Arg)
NM_002109.6(HARS1):c.752A>C (p.Asn251Thr) rs748594458
NM_002109.6(HARS1):c.753T>C (p.Asn251=)
NM_002109.6(HARS1):c.762G>A (p.Val254=)
NM_002109.6(HARS1):c.771G>A (p.Lys257=) rs1758443206
NM_002109.6(HARS1):c.774C>T (p.Gly258=)
NM_002109.6(HARS1):c.783T>G (p.Pro261=)
NM_002109.6(HARS1):c.784G>A (p.Glu262Lys) rs1758442472
NM_002109.6(HARS1):c.795C>G (p.Asp265Glu) rs1050247
NM_002109.6(HARS1):c.797G>T (p.Arg266Leu) rs765223763
NM_002109.6(HARS1):c.79A>G (p.Ser27Gly)
NM_002109.6(HARS1):c.801T>G (p.Ile267Met)
NM_002109.6(HARS1):c.802G>C (p.Gly268Arg) rs2149823964
NM_002109.6(HARS1):c.804G>A (p.Gly268=)
NM_002109.6(HARS1):c.80G>A (p.Ser27Asn)
NM_002109.6(HARS1):c.810T>C (p.Tyr270=)
NM_002109.6(HARS1):c.815A>G (p.Gln272Arg)
NM_002109.6(HARS1):c.823+6G>C rs1758439013
NM_002109.6(HARS1):c.824-10G>C
NM_002109.6(HARS1):c.824-17del
NM_002109.6(HARS1):c.824-1G>A
NM_002109.6(HARS1):c.824-3C>T
NM_002109.6(HARS1):c.826G>C (p.Gly276Arg) rs2149823561
NM_002109.6(HARS1):c.827G>T (p.Gly276Val)
NM_002109.6(HARS1):c.829G>T (p.Val277Leu)
NM_002109.6(HARS1):c.834C>A (p.Ser278=)
NM_002109.6(HARS1):c.836T>A (p.Leu279Gln)
NM_002109.6(HARS1):c.840G>A (p.Val280=) rs1275864095
NM_002109.6(HARS1):c.855G>A (p.Gln285=) rs1343896862
NM_002109.6(HARS1):c.856G>A (p.Asp286Asn)
NM_002109.6(HARS1):c.856G>C (p.Asp286His)
NM_002109.6(HARS1):c.862A>C (p.Lys288Gln)
NM_002109.6(HARS1):c.862A>G (p.Lys288Glu)
NM_002109.6(HARS1):c.868T>C (p.Ser290Pro)
NM_002109.6(HARS1):c.869C>G (p.Ser290Cys)
NM_002109.6(HARS1):c.86A>T (p.Glu29Val)
NM_002109.6(HARS1):c.880C>A (p.Gln294Lys)
NM_002109.6(HARS1):c.882G>A (p.Gln294=) rs1758417684
NM_002109.6(HARS1):c.885C>G (p.Ala295=)
NM_002109.6(HARS1):c.885C>T (p.Ala295=) rs2149823444
NM_002109.6(HARS1):c.888G>T (p.Leu296Phe)
NM_002109.6(HARS1):c.891G>A (p.Glu297=)
NM_002109.6(HARS1):c.895C>G (p.Leu299Val)
NM_002109.6(HARS1):c.897G>C (p.Leu299=) rs2149823428
NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)
NM_002109.6(HARS1):c.89T>G (p.Leu30Arg) rs2149845950
NM_002109.6(HARS1):c.90+11G>A
NM_002109.6(HARS1):c.90+17del rs2149845881
NM_002109.6(HARS1):c.90+18G>A
NM_002109.6(HARS1):c.90+1G>A
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002109.6(HARS1):c.90+3G>A rs1759409258
NM_002109.6(HARS1):c.90+5G>A rs768353479
NM_002109.6(HARS1):c.903C>A (p.Asp301Glu)
NM_002109.6(HARS1):c.91-13T>A
NM_002109.6(HARS1):c.91-17del rs543418150
NM_002109.6(HARS1):c.91-7T>C rs2149845275
NM_002109.6(HARS1):c.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)
NM_002109.6(HARS1):c.924C>T (p.Tyr308=) rs2149823372
NM_002109.6(HARS1):c.929C>A (p.Thr310Asn)
NM_002109.6(HARS1):c.938G>C (p.Gly313Ala)
NM_002109.6(HARS1):c.93C>T (p.Ile31=)
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
NM_002109.6(HARS1):c.951+10G>A
NM_002109.6(HARS1):c.951+12T>C
NM_002109.6(HARS1):c.952-4A>G rs780815128
NM_002109.6(HARS1):c.952-6C>T
NM_002109.6(HARS1):c.952-8C>A
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)
NM_002109.6(HARS1):c.954C>A (p.Ile318=)
NM_002109.6(HARS1):c.954C>T (p.Ile318=) rs1758406223
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del) rs962526639
NM_002109.6(HARS1):c.963C>T (p.Asp321=) rs1267161123
NM_002109.6(HARS1):c.969C>T (p.Ser323=)
NM_002109.6(HARS1):c.976C>A (p.Arg326=) rs1248042019
NM_002109.6(HARS1):c.976C>T (p.Arg326Ter) rs1248042019
NM_002109.6(HARS1):c.977G>A (p.Arg326Gln) rs765994836
NM_002109.6(HARS1):c.981G>T (p.Gly327=) rs1758401892
NM_002109.6(HARS1):c.989A>G (p.Tyr330Cys) rs1554106881
NM_002109.6(HARS1):c.993C>T (p.Tyr331=)
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)
NM_002109.6(HARS1):c.996T>G (p.Thr332=)
NM_002109.6(HARS1):c.999G>A (p.Gly333=)

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.