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: 487
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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.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.(?_140058567)_(140062824_?)dup
NC_000005.9:g.140059894_140070834del
NM_002109.6(HARS1):c.1000G>A (p.Val334Met) rs1554106875
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.1040C>T (p.Ala347Val)
NM_002109.6(HARS1):c.1045G>A (p.Glu349Lys) rs1371763515
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.1158G>T (p.Val386=) rs2149822667
NM_002109.6(HARS1):c.1159G>A (p.Glu387Lys) rs1758380241
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.1185G>C (p.Gln395His) rs546882914
NM_002109.6(HARS1):c.1186A>G (p.Arg396Gly) rs2149822607
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.1249C>T (p.Gln417Ter) rs866572603
NM_002109.6(HARS1):c.1252AAG[1] (p.Lys419del) rs779289896
NM_002109.6(HARS1):c.1255_1256delinsCT (p.Lys419Leu) rs1758283199
NM_002109.6(HARS1):c.1256A>G (p.Lys419Arg)
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>G
NM_002109.6(HARS1):c.1311+8A>C
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA rs2149819821
NM_002109.6(HARS1):c.1312-11G>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.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.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.159A>G (p.Lys53=) rs1759375118
NM_002109.6(HARS1):c.170A>G (p.Lys57Arg)
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+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.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.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.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.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.397-12C>G rs2149826975
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.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.4G>A (p.Ala2Thr) rs1759420210
NM_002109.6(HARS1):c.4del (p.Ala2fs)
NM_002109.6(HARS1):c.505C>T (p.Arg169Trp)
NM_002109.6(HARS1):c.507G>A (p.Arg169=) rs2149826709
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>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.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.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.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.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.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.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.862A>G (p.Lys288Glu)
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.897G>C (p.Leu299=) rs2149823428
NM_002109.6(HARS1):c.898G>A (p.Gly300Arg)
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.93C>T (p.Ile31=)
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
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.952A>T (p.Ile318Phe)
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.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=)

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