ClinVar Miner

List of variants reported as uncertain significance for Usher syndrome type 3B by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_002109.6(HARS1):c.382C>T (p.Arg128Cys) rs138582560 0.00031
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.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.1361A>C (p.Tyr454Ser) rs387906639 0.00009
NM_002109.6(HARS1):c.655G>A (p.Gly219Arg) rs769535360 0.00007
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.100G>C (p.Glu34Gln) rs377739193 0.00004
NM_002109.6(HARS1):c.1067G>A (p.Ser356Asn) rs144322728 0.00004
NM_002109.6(HARS1):c.1133C>T (p.Pro378Leu) rs377410852 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.88C>A (p.Leu30Met) rs1247070065 0.00004
NM_002109.6(HARS1):c.1105A>G (p.Met369Val) rs749991162 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.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+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.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.637G>A (p.Asp213Asn) rs759634200 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.1129G>T (p.Val377Leu) rs1236403537 0.00001
NM_002109.6(HARS1):c.1156G>A (p.Val386Met) rs766493535 0.00001
NM_002109.6(HARS1):c.1162C>T (p.Arg388Trp) rs761949872 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.1311+4T>C rs958234389 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.1407G>C (p.Gln469His) rs1405966952 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.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.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.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.506G>A (p.Arg169Gln) rs146922029 0.00001
NM_002109.6(HARS1):c.522+1G>A rs375271566 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.650T>C (p.Leu217Pro) rs762921085 0.00001
NM_002109.6(HARS1):c.713T>C (p.Val238Ala) rs536175170 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.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+4A>C rs776405841 0.00001
NM_002109.6(HARS1):c.907A>C (p.Lys303Gln) rs774041144 0.00001
NM_002109.6(HARS1):c.93C>G (p.Ile31Met) rs768408406 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.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.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.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.1055T>G (p.Leu352Arg)
NM_002109.6(HARS1):c.1058G>C (p.Gly353Ala)
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.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.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.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>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.1195-14T>A
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.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.1271G>A (p.Arg424Lys)
NM_002109.6(HARS1):c.1286C>T (p.Ser429Leu)
NM_002109.6(HARS1):c.1312-10_1312-9insGTACAGCA rs2149819821
NM_002109.6(HARS1):c.1312-1G>A
NM_002109.6(HARS1):c.1328A>G (p.Lys443Arg)
NM_002109.6(HARS1):c.1358A>G (p.Gln453Arg) rs2149819642
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.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.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.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.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.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.175C>T (p.Pro59Ser) rs1759373051
NM_002109.6(HARS1):c.178A>C (p.Lys60Gln)
NM_002109.6(HARS1):c.180+4A>T rs2149844902
NM_002109.6(HARS1):c.180G>A (p.Lys60=)
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.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.261C>G (p.His87Gln)
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.2T>C (p.Met1Thr) rs1759420438
NM_002109.6(HARS1):c.300+4del
NM_002109.6(HARS1):c.300+6G>A
NM_002109.6(HARS1):c.300G>A (p.Lys100=)
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.391C>T (p.Leu131Phe)
NM_002109.6(HARS1):c.392T>G (p.Leu131Arg)
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.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.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.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.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.50G>T (p.Arg17Leu)
NM_002109.6(HARS1):c.515A>G (p.Tyr172Cys)
NM_002109.6(HARS1):c.545T>G (p.Phe182Cys) rs1758491184
NM_002109.6(HARS1):c.553A>G (p.Met185Val)
NM_002109.6(HARS1):c.553A>T (p.Met185Leu)
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.62T>G (p.Leu21Arg) rs1759411593
NM_002109.6(HARS1):c.630+6A>G
NM_002109.6(HARS1):c.630+8C>G rs1021221934
NM_002109.6(HARS1):c.631-3C>A
NM_002109.6(HARS1):c.631-3C>T rs533067917
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>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.684C>A (p.Asp228Glu)
NM_002109.6(HARS1):c.689A>G (p.Lys230Arg) rs1416014791
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.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.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.80G>A (p.Ser27Asn)
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.824-1G>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.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.888G>T (p.Leu296Phe)
NM_002109.6(HARS1):c.895C>G (p.Leu299Val)
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+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.911_922del (p.Leu304_Glu307del) rs794727969
NM_002109.6(HARS1):c.913C>T (p.Leu305Phe)
NM_002109.6(HARS1):c.929C>A (p.Thr310Asn)
NM_002109.6(HARS1):c.938G>C (p.Gly313Ala)
NM_002109.6(HARS1):c.943_944delinsTT (p.Asp315Phe)
NM_002109.6(HARS1):c.952A>T (p.Ile318Phe)
NM_002109.6(HARS1):c.95AGG[2] (p.Glu34del) rs962526639
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.989A>G (p.Tyr330Cys) rs1554106881
NM_002109.6(HARS1):c.994A>G (p.Thr332Ala)

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