ClinVar Miner

List of variants reported as uncertain significance for inherited sideroblastic anemia

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 403
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HGVS dbSNP gnomAD frequency
NM_017875.4(SLC25A38):c.-292G>A rs142441701 0.01159
NM_017875.4(SLC25A38):c.*431G>A rs73058292 0.00540
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg) rs144149294 0.00385
NM_017875.4(SLC25A38):c.*304C>T rs113251543 0.00262
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_025215.5(PUS1):c.-453C>T rs551126678 0.00180
NM_017875.4(SLC25A38):c.11A>G (p.Asn4Ser) rs61995897 0.00151
NM_017875.4(SLC25A38):c.525G>C (p.Arg175=) rs149992222 0.00139
NM_001040436.3(YARS2):c.*126_*127del rs141873255 0.00137
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_017875.4(SLC25A38):c.-161G>A rs528990278 0.00120
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg) rs187921784 0.00106
NM_025215.6(PUS1):c.1140C>T (p.Thr380=) rs138198591 0.00098
NM_017875.4(SLC25A38):c.*490G>A rs150889211 0.00096
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_001040436.3(YARS2):c.*360A>G rs567955032 0.00069
NM_017875.4(SLC25A38):c.12C>T (p.Asn4=) rs142420345 0.00064
NM_017875.4(SLC25A38):c.*305G>A rs774462116 0.00056
NM_017875.4(SLC25A38):c.-237G>A rs527536267 0.00051
NM_001040436.3(YARS2):c.535A>C (p.Lys179Gln) rs147630375 0.00047
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_025215.6(PUS1):c.821G>A (p.Arg274Gln) rs138561555 0.00039
NM_025215.6(PUS1):c.-244G>C rs886049091 0.00037
NM_017875.4(SLC25A38):c.456+10A>G rs368989667 0.00033
NM_017875.4(SLC25A38):c.161G>A (p.Arg54His) rs144319567 0.00032
NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val) rs143328343 0.00031
NM_000032.5(ALAS2):c.373A>G (p.Ile125Val) rs143995220 0.00030
NM_017875.4(SLC25A38):c.*547C>T rs559766369 0.00030
NM_017875.4(SLC25A38):c.302T>C (p.Val101Ala) rs141545606 0.00030
NM_017875.4(SLC25A38):c.-69C>T rs886058470 0.00029
NM_025215.6(PUS1):c.*152A>T rs188546423 0.00027
NM_017875.4(SLC25A38):c.-225G>A rs370977005 0.00025
NM_025215.6(PUS1):c.*164C>T rs554815640 0.00025
NM_001271696.3(ABCB7):c.*113A>G rs916633787 0.00024
NM_001040436.3(YARS2):c.*24A>G rs368305831 0.00021
NM_182916.3(TRNT1):c.107A>T (p.Glu36Val) rs138682354 0.00021
NM_182916.3(TRNT1):c.383A>G (p.Asp128Gly) rs148398677 0.00019
NM_025215.6(PUS1):c.*120G>A rs569395844 0.00017
NM_025215.6(PUS1):c.*122C>T rs747836180 0.00016
NM_182916.3(TRNT1):c.787G>A (p.Val263Met) rs201873697 0.00014
NM_001040436.3(YARS2):c.934G>C (p.Asp312His) rs190043383 0.00013
NM_017875.4(SLC25A38):c.462G>A (p.Gly154=) rs369980078 0.00013
NM_001040436.3(YARS2):c.180G>A (p.Glu60=) rs137922867 0.00011
NM_001040436.3(YARS2):c.819A>G (p.Leu273=) rs149781186 0.00011
NM_017875.4(SLC25A38):c.*404G>A rs886058473 0.00011
NM_017875.4(SLC25A38):c.-227G>A rs886058468 0.00011
NM_017875.4(SLC25A38):c.199C>T (p.Arg67Cys) rs200791957 0.00011
NM_017875.4(SLC25A38):c.486C>T (p.Tyr162=) rs531290475 0.00011
NM_025215.6(PUS1):c.1266G>A (p.Gly422=) rs201441662 0.00011
NM_182916.3(TRNT1):c.259A>G (p.Thr87Ala) rs140935012 0.00011
NM_182916.3(TRNT1):c.500T>C (p.Phe167Ser) rs145784140 0.00011
NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr) rs753156183 0.00010
NM_001040436.3(YARS2):c.*142T>C rs190589666 0.00010
NM_001040436.3(YARS2):c.*627A>T rs886049303 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NM_025215.6(PUS1):c.1166A>G (p.Gln389Arg) rs753674809 0.00009
NM_025215.6(PUS1):c.207C>G (p.Leu69=) rs140067992 0.00009
NM_025215.6(PUS1):c.904G>A (p.Val302Met) rs148057665 0.00009
NM_182916.3(TRNT1):c.982A>G (p.Lys328Glu) rs747469885 0.00008
NM_017875.4(SLC25A38):c.626-5T>C rs767154505 0.00007
NM_025215.6(PUS1):c.287G>A (p.Gly96Asp) rs143828069 0.00007
NM_025215.6(PUS1):c.649G>A (p.Val217Ile) rs200591614 0.00007
NM_182916.3(TRNT1):c.682A>G (p.Lys228Glu) rs372627156 0.00007
NM_182916.3(TRNT1):c.848A>G (p.Lys283Arg) rs201174442 0.00007
NM_001040436.3(YARS2):c.*478G>A rs925773588 0.00006
NM_001040436.3(YARS2):c.810C>T (p.Thr270=) rs145906298 0.00006
NM_025215.6(PUS1):c.365G>A (p.Arg122Gln) rs199863621 0.00006
NM_025215.6(PUS1):c.972C>T (p.Asp324=) rs200065515 0.00006
NM_182916.3(TRNT1):c.1045T>G (p.Phe349Val) rs760473412 0.00006
NM_182916.3(TRNT1):c.1066C>T (p.Pro356Ser) rs375726663 0.00006
NM_182916.3(TRNT1):c.1081C>T (p.Arg361Cys) rs770721227 0.00006
NM_182916.3(TRNT1):c.667A>G (p.Ile223Val) rs376974085 0.00006
NM_001040436.3(YARS2):c.477C>T (p.Phe159=) rs774325742 0.00005
NM_025215.6(PUS1):c.1068G>A (p.Leu356=) rs201753270 0.00005
NM_025215.6(PUS1):c.984G>A (p.Ala328=) rs143660941 0.00005
NM_182916.3(TRNT1):c.697A>G (p.Ile233Val) rs377218988 0.00005
NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln) rs372675935 0.00004
NM_000032.5(ALAS2):c.416-11T>C rs977637650 0.00004
NM_001040436.3(YARS2):c.*595G>A rs961010458 0.00004
NM_001040436.3(YARS2):c.1241G>A (p.Arg414His) rs762786998 0.00004
NM_017875.4(SLC25A38):c.*370C>T rs886058472 0.00004
NM_025215.6(PUS1):c.-287G>C rs886049088 0.00004
NM_025215.6(PUS1):c.1134C>T (p.Ile378=) rs570364615 0.00004
NM_025215.6(PUS1):c.426C>T (p.Cys142=) rs554459931 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_182916.3(TRNT1):c.502G>T (p.Asp168Tyr) rs746543080 0.00004
NM_182916.3(TRNT1):c.567G>T (p.Gln189His) rs760683285 0.00004
NM_182916.3(TRNT1):c.88A>G (p.Met30Val) rs375274931 0.00004
NM_182916.3(TRNT1):c.900C>A (p.Phe300Leu) rs376431679 0.00004
NM_017875.4(SLC25A38):c.*395G>A rs576792249 0.00003
NM_025215.6(PUS1):c.-246G>A rs886049090 0.00003
NM_025215.6(PUS1):c.-266G>C rs886049089 0.00003
NM_025215.6(PUS1):c.789C>G (p.Ile263Met) rs755760215 0.00003
NM_182916.3(TRNT1):c.1079C>T (p.Thr360Ile) rs776480350 0.00003
NM_182916.3(TRNT1):c.463A>G (p.Ile155Val) rs770395497 0.00003
NM_182916.3(TRNT1):c.514G>A (p.Gly172Ser) rs1459323924 0.00003
NM_182916.3(TRNT1):c.826G>A (p.Glu276Lys) rs766270526 0.00003
NM_000032.5(ALAS2):c.1638C>G (p.Pro546=) rs763266087 0.00002
NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys) rs754772558 0.00002
NM_001040436.2(YARS2):c.-72C>G rs552674058 0.00002
NM_001271696.3(ABCB7):c.1935+5G>C rs763223675 0.00002
NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met) rs143865753 0.00002
NM_017875.4(SLC25A38):c.780A>G (p.Thr260=) rs763845960 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025215.6(PUS1):c.136C>T (p.Arg46Trp) rs765257355 0.00002
NM_025215.6(PUS1):c.216T>C (p.Gly72=) rs766451588 0.00002
NM_025215.6(PUS1):c.683C>T (p.Thr228Met) rs755448329 0.00002
NM_025215.6(PUS1):c.841G>A (p.Val281Met) rs776626629 0.00002
NM_182916.3(TRNT1):c.1162G>A (p.Val388Ile) rs1006778318 0.00002
NM_182916.3(TRNT1):c.1190G>C (p.Gly397Ala) rs1427498466 0.00002
NM_182916.3(TRNT1):c.1278A>C (p.Glu426Asp) rs770832123 0.00002
NM_182916.3(TRNT1):c.184G>T (p.Ala62Ser) rs150902982 0.00002
NM_182916.3(TRNT1):c.193G>C (p.Ala65Pro) rs1354319879 0.00002
NM_182916.3(TRNT1):c.210A>C (p.Leu70Phe) rs750056889 0.00002
NM_182916.3(TRNT1):c.325G>A (p.Gly109Arg) rs765959111 0.00002
NM_182916.3(TRNT1):c.395A>G (p.Asp132Gly) rs773948765 0.00002
NM_182916.3(TRNT1):c.43C>T (p.Arg15Cys) rs766234875 0.00002
NM_182916.3(TRNT1):c.448C>T (p.Arg150Cys) rs747332169 0.00002
NM_182916.3(TRNT1):c.549T>G (p.Phe183Leu) rs774353592 0.00002
NM_182916.3(TRNT1):c.65T>G (p.Leu22Arg) rs191706901 0.00002
NM_182916.3(TRNT1):c.847A>G (p.Lys283Glu) rs749437475 0.00002
NM_000032.5(ALAS2):c.110G>A (p.Arg37His) rs756790340 0.00001
NM_000032.5(ALAS2):c.1335C>T (p.Ala445=) rs765603040 0.00001
NM_000032.5(ALAS2):c.1458C>T (p.Asn486=) rs772107960 0.00001
NM_001002019.2(PUS1):c.-149G>C rs1033621386 0.00001
NM_001040436.3(YARS2):c.*230A>G rs371690622 0.00001
NM_001040436.3(YARS2):c.234T>C (p.Cys78=) rs565102282 0.00001
NM_001040436.3(YARS2):c.917T>C (p.Phe306Ser) rs376934259 0.00001
NM_001271696.3(ABCB7):c.1230A>G (p.Leu410=) rs1175852840 0.00001
NM_001271696.3(ABCB7):c.168+13T>C rs1057515989 0.00001
NM_001271696.3(ABCB7):c.1802A>G (p.Gln601Arg) rs141119655 0.00001
NM_001271696.3(ABCB7):c.2066C>T (p.Thr689Ile) rs768257406 0.00001
NM_001271696.3(ABCB7):c.2073T>C (p.His691=) rs781524899 0.00001
NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser) rs773847949 0.00001
NM_017875.4(SLC25A38):c.*381G>C rs2041837298 0.00001
NM_017875.4(SLC25A38):c.-325G>C rs886058467 0.00001
NM_017875.4(SLC25A38):c.280A>G (p.Ile94Val) rs759315257 0.00001
NM_017875.4(SLC25A38):c.288A>G (p.Arg96=) rs765578993 0.00001
NM_017875.4(SLC25A38):c.652A>T (p.Ile218Phe) rs764125735 0.00001
NM_025215.6(PUS1):c.*192T>C rs930371689 0.00001
NM_025215.6(PUS1):c.-80G>A rs1215451501 0.00001
NM_025215.6(PUS1):c.1135G>A (p.Gly379Ser) rs886049093 0.00001
NM_025215.6(PUS1):c.41G>A (p.Arg14Gln) rs146103500 0.00001
NM_025215.6(PUS1):c.638A>G (p.Lys213Arg) rs545204877 0.00001
NM_025215.6(PUS1):c.644G>A (p.Arg215Gln) rs745345996 0.00001
NM_025215.6(PUS1):c.725C>T (p.Thr242Met) rs886049092 0.00001
NM_025215.6(PUS1):c.894C>T (p.Val298=) rs201908893 0.00001
NM_025215.6(PUS1):c.946C>T (p.Arg316Cys) rs573837941 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_182916.3(TRNT1):c.1025C>T (p.Pro342Leu) rs1307103374 0.00001
NM_182916.3(TRNT1):c.1054G>C (p.Asp352His) rs1170870898 0.00001
NM_182916.3(TRNT1):c.1073C>G (p.Ala358Gly) rs746690923 0.00001
NM_182916.3(TRNT1):c.1112A>G (p.Glu371Gly) rs1179943378 0.00001
NM_182916.3(TRNT1):c.1130A>T (p.Glu377Val) rs1050894893 0.00001
NM_182916.3(TRNT1):c.1144T>C (p.Ser382Pro) rs866447898 0.00001
NM_182916.3(TRNT1):c.1235G>A (p.Arg412Gln) rs761145683 0.00001
NM_182916.3(TRNT1):c.1289A>T (p.Tyr430Phe) rs774429750 0.00001
NM_182916.3(TRNT1):c.1305A>C (p.Ter435Tyr) rs1312301408 0.00001
NM_182916.3(TRNT1):c.145A>G (p.Thr49Ala) rs1704830773 0.00001
NM_182916.3(TRNT1):c.170A>G (p.His57Arg) rs1488255780 0.00001
NM_182916.3(TRNT1):c.172G>A (p.Glu58Lys) rs768028459 0.00001
NM_182916.3(TRNT1):c.1A>G (p.Met1Val) rs779568831 0.00001
NM_182916.3(TRNT1):c.251C>G (p.Ala84Gly) rs976462533 0.00001
NM_182916.3(TRNT1):c.262C>G (p.Gln88Glu) rs1439134079 0.00001
NM_182916.3(TRNT1):c.284C>T (p.Ser95Leu) rs1287896952 0.00001
NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp) rs759826831 0.00001
NM_182916.3(TRNT1):c.298A>G (p.Met100Val) rs996280968 0.00001
NM_182916.3(TRNT1):c.31C>G (p.Pro11Ala) rs769556416 0.00001
NM_182916.3(TRNT1):c.320A>G (p.Lys107Arg) rs764696586 0.00001
NM_182916.3(TRNT1):c.322C>G (p.His108Asp) rs1159782126 0.00001
NM_182916.3(TRNT1):c.376C>T (p.Arg126Trp) rs780385153 0.00001
NM_182916.3(TRNT1):c.38T>C (p.Leu13Pro) rs762748487 0.00001
NM_182916.3(TRNT1):c.449G>A (p.Arg150His) rs1012537748 0.00001
NM_182916.3(TRNT1):c.493A>G (p.Thr165Ala) rs754369247 0.00001
NM_182916.3(TRNT1):c.505T>C (p.Tyr169His) rs1705867660 0.00001
NM_182916.3(TRNT1):c.557A>T (p.His186Leu) rs1433500811 0.00001
NM_182916.3(TRNT1):c.638G>C (p.Gly213Ala) rs745817126 0.00001
NM_182916.3(TRNT1):c.716G>C (p.Trp239Ser) rs753464075 0.00001
NM_182916.3(TRNT1):c.748C>G (p.His250Asp) rs1453297459 0.00001
NM_182916.3(TRNT1):c.74A>C (p.Gln25Pro) rs764391872 0.00001
NM_182916.3(TRNT1):c.763A>G (p.Ile255Val) rs776889080 0.00001
NM_182916.3(TRNT1):c.781C>A (p.Leu261Ile) rs116700675 0.00001
NM_182916.3(TRNT1):c.808C>T (p.Pro270Ser) rs776704386 0.00001
NM_182916.3(TRNT1):c.818C>G (p.Ala273Gly) rs1489444334 0.00001
NM_182916.3(TRNT1):c.833T>G (p.Phe278Cys) rs1424196039 0.00001
NM_182916.3(TRNT1):c.886T>G (p.Leu296Val) rs374592904 0.00001
NM_182916.3(TRNT1):c.946G>A (p.Ala316Thr) rs753967295 0.00001
NC_000003.11:g.(?_3170725)_(3189838_?)dup
NC_000003.12:g.(?_3129021)_(3148174_?)dup
NM_000032.5(ALAS2):c.-15-1829T>C
NM_000032.5(ALAS2):c.-16+6A>G rs1935989193
NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp) rs1935687757
NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)
NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=) rs1602244633
NM_000032.5(ALAS2):c.741C>T (p.His247=) rs1057515971
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_001040436.2(YARS2):c.-31A>G rs557243101
NM_001040436.3(YARS2):c.*377G>A rs1955646004
NM_001040436.3(YARS2):c.*62G>A rs527443669
NM_001040436.3(YARS2):c.1104-16dup rs761612441
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001040436.3(YARS2):c.1427A>G (p.Gln476Arg) rs1955656296
NM_001040436.3(YARS2):c.30C>T (p.Ser10=) rs886049305
NM_001040436.3(YARS2):c.327C>G (p.Ile109Met) rs886049304
NM_001040436.3(YARS2):c.7G>A (p.Ala3Thr) rs772348768
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001271696.3(ABCB7):c.1200T>C (p.Ile400=) rs72554634
NM_001271696.3(ABCB7):c.1936-3C>G rs1602330362
NM_001271696.3(ABCB7):c.358A>G (p.Ile120Val)
NM_001271696.3(ABCB7):c.944+3A>G rs2081385144
NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala) rs1891515868
NM_017875.4(SLC25A38):c.*548G>A rs531997173
NM_017875.4(SLC25A38):c.*718G>A rs2041842608
NM_017875.4(SLC25A38):c.-15C>A rs1373209338
NM_017875.4(SLC25A38):c.-219T>C rs886058469
NM_017875.4(SLC25A38):c.-39G>C rs375182491
NM_017875.4(SLC25A38):c.400C>T (p.Arg134Cys) rs1293528130
NM_017875.4(SLC25A38):c.528C>A (p.Gly176=) rs2041775190
NM_017875.4(SLC25A38):c.570C>A (p.Pro190=) rs886058471
NM_017875.4(SLC25A38):c.625G>A (p.Asp209Asn) rs146864395
NM_017875.4(SLC25A38):c.85A>G (p.Lys29Glu)
NM_025215.6(PUS1):c.-151G>A rs1890481878
NM_025215.6(PUS1):c.-424C>T rs1890465624
NM_025215.6(PUS1):c.1129A>G (p.Ile377Val) rs200292016
NM_025215.6(PUS1):c.190C>T (p.His64Tyr) rs770669291
NM_025215.6(PUS1):c.423C>A (p.Arg141=) rs371752870
NM_025215.6(PUS1):c.517C>T (p.His173Tyr)
NM_025215.6(PUS1):c.679G>A (p.Glu227Lys)
NM_025215.6(PUS1):c.737A>G (p.His246Arg) rs1891063731
NM_025215.6(PUS1):c.937G>A (p.Val313Met) rs140088613
NM_182916.3(TRNT1):c.*2del (p.Ter435=) rs2126038625
NM_182916.3(TRNT1):c.1010C>A (p.Thr337Lys) rs1706134057
NM_182916.3(TRNT1):c.1013A>G (p.Asp338Gly)
NM_182916.3(TRNT1):c.1021G>A (p.Asp341Asn) rs2126037069
NM_182916.3(TRNT1):c.1034C>T (p.Pro345Leu)
NM_182916.3(TRNT1):c.1043A>G (p.Asp348Gly) rs2126037130
NM_182916.3(TRNT1):c.1051A>G (p.Ile351Val)
NM_182916.3(TRNT1):c.1052T>A (p.Ile351Lys) rs2126037168
NM_182916.3(TRNT1):c.1056+3A>C
NM_182916.3(TRNT1):c.1056+6T>C
NM_182916.3(TRNT1):c.106G>A (p.Glu36Lys) rs1480255948
NM_182916.3(TRNT1):c.1078A>G (p.Thr360Ala)
NM_182916.3(TRNT1):c.1078A>T (p.Thr360Ser)
NM_182916.3(TRNT1):c.107A>G (p.Glu36Gly) rs138682354
NM_182916.3(TRNT1):c.1082G>A (p.Arg361His) rs527881651
NM_182916.3(TRNT1):c.1082G>T (p.Arg361Leu) rs527881651
NM_182916.3(TRNT1):c.1088G>C (p.Cys363Ser) rs773206803
NM_182916.3(TRNT1):c.112C>G (p.Gln38Glu) rs1704825513
NM_182916.3(TRNT1):c.1135C>G (p.Gln379Glu)
NM_182916.3(TRNT1):c.114G>C (p.Gln38His) rs2126002222
NM_182916.3(TRNT1):c.1178T>A (p.Ile393Asn)
NM_182916.3(TRNT1):c.1182A>T (p.Arg394Ser) rs2126038235
NM_182916.3(TRNT1):c.1183A>G (p.Lys395Glu) rs2126038239
NM_182916.3(TRNT1):c.1187T>C (p.Val396Ala)
NM_182916.3(TRNT1):c.118C>G (p.Leu40Val) rs908960894
NM_182916.3(TRNT1):c.1205A>G (p.Lys402Arg)
NM_182916.3(TRNT1):c.1211T>C (p.Ile404Thr) rs1706181879
NM_182916.3(TRNT1):c.1213G>A (p.Gly405Arg)
NM_182916.3(TRNT1):c.1213G>C (p.Gly405Arg)
NM_182916.3(TRNT1):c.1223T>C (p.Leu408Ser)
NM_182916.3(TRNT1):c.1224ACA[3] (p.Gln410dup) rs2126038336
NM_182916.3(TRNT1):c.1225C>G (p.Gln409Glu)
NM_182916.3(TRNT1):c.1237G>A (p.Glu413Lys)
NM_182916.3(TRNT1):c.1240C>G (p.Gln414Glu) rs764603508
NM_182916.3(TRNT1):c.1247A>G (p.Lys416Arg) rs2126038415
NM_182916.3(TRNT1):c.1249A>G (p.Lys417Glu) rs751047325
NM_182916.3(TRNT1):c.1260C>A (p.Tyr420Ter)
NM_182916.3(TRNT1):c.1269A>C (p.Glu423Asp) rs777580759
NM_182916.3(TRNT1):c.1274A>G (p.Asp425Gly) rs146766859
NM_182916.3(TRNT1):c.1274A>T (p.Asp425Val) rs146766859
NM_182916.3(TRNT1):c.1276G>C (p.Glu426Gln)
NM_182916.3(TRNT1):c.1281_1283dup (p.Leu428_Ser429insLeu)
NM_182916.3(TRNT1):c.1283T>C (p.Leu428Pro) rs2126038533
NM_182916.3(TRNT1):c.1284_1287dup (p.Tyr430fs) rs1559232394
NM_182916.3(TRNT1):c.1286G>T (p.Ser429Ile) rs2126038555
NM_182916.3(TRNT1):c.1290_1291insTTTAA (p.Ile431fs)
NM_182916.3(TRNT1):c.1291A>G (p.Ile431Val) rs142642881
NM_182916.3(TRNT1):c.1295AGA[1] (p.Lys433del) rs1575068543
NM_182916.3(TRNT1):c.1296G>T (p.Lys432Asn)
NM_182916.3(TRNT1):c.12C>T (p.Cys4=)
NM_182916.3(TRNT1):c.1300A>T (p.Thr434Ser)
NM_182916.3(TRNT1):c.140_141delinsTC (p.Ser47Ile)
NM_182916.3(TRNT1):c.148+3G>A rs1575035691
NM_182916.3(TRNT1):c.149-6_149-2del
NM_182916.3(TRNT1):c.151T>A (p.Leu51Ile)
NM_182916.3(TRNT1):c.155T>C (p.Phe52Ser) rs1705383984
NM_182916.3(TRNT1):c.165G>T (p.Glu55Asp)
NM_182916.3(TRNT1):c.171C>A (p.His57Gln) rs760080058
NM_182916.3(TRNT1):c.179G>C (p.Arg60Thr)
NM_182916.3(TRNT1):c.179G>T (p.Arg60Ile) rs1283386278
NM_182916.3(TRNT1):c.182T>G (p.Ile61Arg) rs2126017364
NM_182916.3(TRNT1):c.185C>G (p.Ala62Gly) rs1430870230
NM_182916.3(TRNT1):c.208T>G (p.Leu70Val) rs1705387323
NM_182916.3(TRNT1):c.212A>G (p.Asn71Ser)
NM_182916.3(TRNT1):c.215G>C (p.Gly72Ala) rs1267775202
NM_182916.3(TRNT1):c.233T>C (p.Ile78Thr) rs1553553306
NM_182916.3(TRNT1):c.234A>G (p.Ile78Met) rs2126017445
NM_182916.3(TRNT1):c.250G>C (p.Ala84Pro) rs781277263
NM_182916.3(TRNT1):c.264A>G (p.Gln88=) rs1705392118
NM_182916.3(TRNT1):c.277T>A (p.Phe93Ile) rs2126017533
NM_182916.3(TRNT1):c.27C>G (p.His9Gln)
NM_182916.3(TRNT1):c.282G>T (p.Gln94His) rs527886866
NM_182916.3(TRNT1):c.293T>G (p.Ile98Ser)
NM_182916.3(TRNT1):c.296G>A (p.Arg99Gln) rs1392135239
NM_182916.3(TRNT1):c.31C>T (p.Pro11Ser)
NM_182916.3(TRNT1):c.335C>G (p.Thr112Ser)
NM_182916.3(TRNT1):c.342+20G>C
NM_182916.3(TRNT1):c.343-69_343-8del
NM_182916.3(TRNT1):c.348T>G (p.His116Gln) rs1705578519
NM_182916.3(TRNT1):c.361G>A (p.Glu121Lys) rs2126022941
NM_182916.3(TRNT1):c.368C>G (p.Thr123Ser) rs1278148249
NM_182916.3(TRNT1):c.389C>G (p.Thr130Ser) rs1705581594
NM_182916.3(TRNT1):c.391A>G (p.Thr131Ala)
NM_182916.3(TRNT1):c.395A>C (p.Asp132Ala) rs773948765
NM_182916.3(TRNT1):c.398G>T (p.Gly133Val) rs759253937
NM_182916.3(TRNT1):c.403C>T (p.His135Tyr) rs752478909
NM_182916.3(TRNT1):c.410A>C (p.Glu137Ala) rs1705583571
NM_182916.3(TRNT1):c.412G>A (p.Val138Ile) rs907649149
NM_182916.3(TRNT1):c.422C>T (p.Thr141Ile) rs1276258304
NM_182916.3(TRNT1):c.435G>T (p.Gln145His)
NM_182916.3(TRNT1):c.443C>G (p.Ala148Gly)
NM_182916.3(TRNT1):c.460A>C (p.Thr154Pro) rs1233701431
NM_182916.3(TRNT1):c.472A>G (p.Met158Val) rs771781629
NM_182916.3(TRNT1):c.481+4A>G
NM_182916.3(TRNT1):c.481+5T>C rs761643814
NM_182916.3(TRNT1):c.482-4A>G
NM_182916.3(TRNT1):c.482-8A>G rs1375077738
NM_182916.3(TRNT1):c.484T>C (p.Phe162Leu) rs965848707
NM_182916.3(TRNT1):c.499T>C (p.Phe167Leu) rs2126031119
NM_182916.3(TRNT1):c.502G>C (p.Asp168His) rs746543080
NM_182916.3(TRNT1):c.509T>C (p.Phe170Ser)
NM_182916.3(TRNT1):c.510T>A (p.Phe170Leu) rs371733557
NM_182916.3(TRNT1):c.530A>G (p.Lys177Arg) rs1705869749
NM_182916.3(TRNT1):c.545G>A (p.Arg182Lys)
NM_182916.3(TRNT1):c.545G>C (p.Arg182Thr)
NM_182916.3(TRNT1):c.550G>A (p.Val184Ile) rs1705871121
NM_182916.3(TRNT1):c.556C>T (p.His186Tyr)
NM_182916.3(TRNT1):c.578A>G (p.Glu193Gly)
NM_182916.3(TRNT1):c.581A>G (p.Asp194Gly) rs754316396
NM_182916.3(TRNT1):c.586C>G (p.Leu196Val)
NM_182916.3(TRNT1):c.592A>C (p.Ile198Leu) rs757780903
NM_182916.3(TRNT1):c.59T>C (p.Leu20Pro) rs1704816332
NM_182916.3(TRNT1):c.608+6A>G rs747803738
NM_182916.3(TRNT1):c.608+6A>T rs747803738
NM_182916.3(TRNT1):c.609G>A (p.Arg203=) rs1706023403
NM_182916.3(TRNT1):c.611T>G (p.Phe204Cys) rs1706023542
NM_182916.3(TRNT1):c.624T>G (p.Ile208Met) rs367981406
NM_182916.3(TRNT1):c.631A>C (p.Lys211Gln) rs372027157
NM_182916.3(TRNT1):c.632A>G (p.Lys211Arg)
NM_182916.3(TRNT1):c.638G>T (p.Gly213Val) rs745817126
NM_182916.3(TRNT1):c.640G>A (p.Asp214Asn)
NM_182916.3(TRNT1):c.647A>G (p.Asp216Gly) rs2126034760
NM_182916.3(TRNT1):c.649C>T (p.Pro217Ser) rs775586520
NM_182916.3(TRNT1):c.64C>T (p.Leu22Phe) rs965646183
NM_182916.3(TRNT1):c.669T>G (p.Ile223Met) rs2126034798
NM_182916.3(TRNT1):c.671C>T (p.Ala224Val) rs2126034803
NM_182916.3(TRNT1):c.679G>T (p.Ala227Ser) rs2126034812
NM_182916.3(TRNT1):c.686G>A (p.Gly229Asp) rs773514953
NM_182916.3(TRNT1):c.686G>C (p.Gly229Ala) rs773514953
NM_182916.3(TRNT1):c.692C>G (p.Ala231Gly) rs1428349978
NM_182916.3(TRNT1):c.700T>G (p.Ser234Ala) rs763684893
NM_182916.3(TRNT1):c.710G>A (p.Arg237Lys) rs2126034891
NM_182916.3(TRNT1):c.724C>G (p.Leu242Val) rs1022234414
NM_182916.3(TRNT1):c.736C>T (p.Leu246Phe) rs1575064652
NM_182916.3(TRNT1):c.739G>T (p.Val247Phe) rs1456113852
NM_182916.3(TRNT1):c.73C>A (p.Gln25Lys)
NM_182916.3(TRNT1):c.742G>A (p.Gly248Ser)
NM_182916.3(TRNT1):c.74A>G (p.Gln25Arg)
NM_182916.3(TRNT1):c.75G>T (p.Gln25His) rs754086954
NM_182916.3(TRNT1):c.766C>A (p.His256Asn)
NM_182916.3(TRNT1):c.772A>G (p.Ile258Val) rs769964961
NM_182916.3(TRNT1):c.774C>G (p.Ile258Met)
NM_182916.3(TRNT1):c.776A>G (p.Tyr259Cys)
NM_182916.3(TRNT1):c.779A>G (p.Asp260Gly) rs1706037095
NM_182916.3(TRNT1):c.791C>G (p.Ala264Gly)
NM_182916.3(TRNT1):c.79C>G (p.Leu27Val)
NM_182916.3(TRNT1):c.800T>C (p.Ile267Thr)
NM_182916.3(TRNT1):c.802+5G>C
NM_182916.3(TRNT1):c.802+6A>G rs1706039327
NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr) rs1553555777
NM_182916.3(TRNT1):c.815A>T (p.Asn272Ile) rs2126036638
NM_182916.3(TRNT1):c.820A>C (p.Ser274Arg) rs1446360172
NM_182916.3(TRNT1):c.824T>C (p.Leu275Ser)
NM_182916.3(TRNT1):c.854T>C (p.Val285Ala)
NM_182916.3(TRNT1):c.856G>A (p.Asp286Asn)
NM_182916.3(TRNT1):c.857A>G (p.Asp286Gly)
NM_182916.3(TRNT1):c.883C>G (p.Leu295Val) rs2126036773
NM_182916.3(TRNT1):c.895T>A (p.Leu299Ile)
NM_182916.3(TRNT1):c.898T>G (p.Phe300Val) rs1706126293
NM_182916.3(TRNT1):c.907C>G (p.Gln303Glu) rs1706127064
NM_182916.3(TRNT1):c.909A>C (p.Gln303His)
NM_182916.3(TRNT1):c.925T>G (p.Leu309Val) rs985101465
NM_182916.3(TRNT1):c.928G>T (p.Asp310Tyr) rs2126036850
NM_182916.3(TRNT1):c.939G>T (p.Leu313Phe)
NM_182916.3(TRNT1):c.943A>G (p.Ile315Val)
NM_182916.3(TRNT1):c.947_948inv (p.Ala316Val)
NM_182916.3(TRNT1):c.948_949delinsGG (p.Lys317Glu) rs1706130150
NM_182916.3(TRNT1):c.968G>A (p.Gly323Asp) rs2126036942
NM_182916.3(TRNT1):c.970T>G (p.Leu324Val)
NM_182916.3(TRNT1):c.989G>A (p.Arg330Lys)
NM_182916.3(TRNT1):c.993A>T (p.Lys331Asn) rs1706133107
NM_182916.3(TRNT1):c.994G>C (p.Asp332His) rs1553555848

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