ClinVar Miner

List of variants in gene TCN2 reported as likely benign for Transcobalamin II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 337
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_000355.4(TCN2):c.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00338
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00188
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00123
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00122
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00047
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00028
NM_000355.4(TCN2):c.257+16C>G rs369577877 0.00026
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000355.4(TCN2):c.249C>T (p.Cys83=) rs151327362 0.00021
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000355.4(TCN2):c.940+11T>C rs202139921 0.00017
NM_000355.4(TCN2):c.258-16A>G rs374013099 0.00016
NM_000355.4(TCN2):c.500A>T (p.His167Leu) rs200303429 0.00015
NM_000355.4(TCN2):c.428-15T>C rs371761297 0.00013
NM_000355.4(TCN2):c.580+16C>T rs200683293 0.00013
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000355.4(TCN2):c.1056G>A (p.Gly352=) rs370869901 0.00009
NM_000355.4(TCN2):c.210C>T (p.Asp70=) rs148829072 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=) rs375447234 0.00007
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=) rs369589347 0.00006
NM_000355.4(TCN2):c.257+13T>A rs375247830 0.00006
NM_000355.4(TCN2):c.580+20C>T rs371132496 0.00006
NM_000355.4(TCN2):c.1053C>T (p.Ala351=) rs142555281 0.00005
NM_000355.4(TCN2):c.279C>T (p.Asp93=) rs138467610 0.00005
NM_000355.4(TCN2):c.717C>T (p.His239=) rs2087598421 0.00005
NM_000355.4(TCN2):c.114C>T (p.Leu38=) rs377673954 0.00004
NM_000355.4(TCN2):c.1107-10C>T rs764096609 0.00003
NM_000355.4(TCN2):c.1107-6C>T rs376062683 0.00003
NM_000355.4(TCN2):c.1191T>C (p.Leu397=) rs142590268 0.00003
NM_000355.4(TCN2):c.753+13C>A rs771453023 0.00003
NM_000355.4(TCN2):c.754-8A>G rs922473055 0.00003
NM_000355.4(TCN2):c.822G>A (p.Leu274=) rs752337376 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000355.4(TCN2):c.258-10C>T rs757142216 0.00002
NM_000355.4(TCN2):c.258-11C>G rs746958412 0.00002
NM_000355.4(TCN2):c.428-7C>T rs778810764 0.00002
NM_000355.4(TCN2):c.65-7T>C rs201199639 0.00002
NM_000355.4(TCN2):c.65-8T>C rs773798398 0.00002
NM_000355.4(TCN2):c.753+8A>G rs778117023 0.00002
NM_000355.4(TCN2):c.754-18T>C rs753413757 0.00002
NM_000355.4(TCN2):c.846C>T (p.Ala282=) rs745306636 0.00002
NM_000355.4(TCN2):c.861C>G (p.Leu287=) rs754444991 0.00002
NM_000355.4(TCN2):c.999G>A (p.Thr333=) rs747578310 0.00002
NM_000355.4(TCN2):c.1038C>T (p.Ser346=) rs1414120180 0.00001
NM_000355.4(TCN2):c.1048C>T (p.Leu350=) rs766113719 0.00001
NM_000355.4(TCN2):c.1062C>T (p.Thr354=) rs770733287 0.00001
NM_000355.4(TCN2):c.1065G>A (p.Val355=) rs749588370 0.00001
NM_000355.4(TCN2):c.1086C>G (p.Ala362=) rs553587653 0.00001
NM_000355.4(TCN2):c.1106+14C>T rs1302547570 0.00001
NM_000355.4(TCN2):c.1106+17C>T rs926596228 0.00001
NM_000355.4(TCN2):c.1107-4G>A rs1485846164 0.00001
NM_000355.4(TCN2):c.1107-7T>G rs756816687 0.00001
NM_000355.4(TCN2):c.1107-9C>T rs751600180 0.00001
NM_000355.4(TCN2):c.1131A>G (p.Ser377=) rs2517919770 0.00001
NM_000355.4(TCN2):c.1134C>T (p.Gly378=) rs770846588 0.00001
NM_000355.4(TCN2):c.1150G>A (p.Val384Met) rs144166182 0.00001
NM_000355.4(TCN2):c.1167C>T (p.Ala389=) rs369722707 0.00001
NM_000355.4(TCN2):c.1212A>G (p.Pro404=) rs768500914 0.00001
NM_000355.4(TCN2):c.1223-20T>C rs754003323 0.00001
NM_000355.4(TCN2):c.1230T>C (p.Ala410=) rs1391122960 0.00001
NM_000355.4(TCN2):c.1233C>T (p.Asp411=) rs931753951 0.00001
NM_000355.4(TCN2):c.1263G>A (p.Glu421=) rs1385370129 0.00001
NM_000355.4(TCN2):c.1272G>A (p.Leu424=) rs560391371 0.00001
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482 0.00001
NM_000355.4(TCN2):c.177C>T (p.Arg59=) rs1385212847 0.00001
NM_000355.4(TCN2):c.225C>T (p.Ser75=) rs776322424 0.00001
NM_000355.4(TCN2):c.252C>G (p.Leu84=) rs141857280 0.00001
NM_000355.4(TCN2):c.257+12C>T rs1206016639 0.00001
NM_000355.4(TCN2):c.257+15dup rs761128650 0.00001
NM_000355.4(TCN2):c.257+8C>T rs747963904 0.00001
NM_000355.4(TCN2):c.258-14T>G rs1415576117 0.00001
NM_000355.4(TCN2):c.267C>T (p.Phe89=) rs769530701 0.00001
NM_000355.4(TCN2):c.270C>T (p.Ser90=) rs775251694 0.00001
NM_000355.4(TCN2):c.282T>C (p.Gly94=) rs766893729 0.00001
NM_000355.4(TCN2):c.285C>T (p.Asp95=) rs1337213288 0.00001
NM_000355.4(TCN2):c.325C>T (p.Leu109=) rs1411013112 0.00001
NM_000355.4(TCN2):c.345C>T (p.Asn115=) rs1268187291 0.00001
NM_000355.4(TCN2):c.390G>A (p.Gln130=) rs565849474 0.00001
NM_000355.4(TCN2):c.423C>T (p.Ala141=) rs774412501 0.00001
NM_000355.4(TCN2):c.427+10C>T rs766259764 0.00001
NM_000355.4(TCN2):c.427+12C>G rs923512913 0.00001
NM_000355.4(TCN2):c.427+13C>T rs753858269 0.00001
NM_000355.4(TCN2):c.427+15T>C rs764862389 0.00001
NM_000355.4(TCN2):c.427+20T>C rs1404428548 0.00001
NM_000355.4(TCN2):c.427+7A>G rs2087564692 0.00001
NM_000355.4(TCN2):c.428-18dup rs778331821 0.00001
NM_000355.4(TCN2):c.428-5C>T rs772319341 0.00001
NM_000355.4(TCN2):c.428-8C>T rs1412501560 0.00001
NM_000355.4(TCN2):c.428-9C>T rs755524582 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.465C>T (p.Tyr155=) rs1484880205 0.00001
NM_000355.4(TCN2):c.490C>T (p.Leu164=) rs754253807 0.00001
NM_000355.4(TCN2):c.507G>A (p.Lys169=) rs758543548 0.00001
NM_000355.4(TCN2):c.567C>T (p.Gly189=) rs143343408 0.00001
NM_000355.4(TCN2):c.581-15G>A rs1312467362 0.00001
NM_000355.4(TCN2):c.581-176A>G rs372866837 0.00001
NM_000355.4(TCN2):c.581-20G>A rs746606019 0.00001
NM_000355.4(TCN2):c.585A>G (p.Thr195=) rs1429024693 0.00001
NM_000355.4(TCN2):c.612C>T (p.Thr204=) rs1237569304 0.00001
NM_000355.4(TCN2):c.627A>G (p.Ser209=) rs1206598744 0.00001
NM_000355.4(TCN2):c.648A>G (p.Arg216=) rs766505332 0.00001
NM_000355.4(TCN2):c.65-6T>A rs1602043415 0.00001
NM_000355.4(TCN2):c.660C>G (p.Thr220=) rs2087597240 0.00001
NM_000355.4(TCN2):c.675A>G (p.Thr225=) rs1316217581 0.00001
NM_000355.4(TCN2):c.708C>T (p.Pro236=) rs762630641 0.00001
NM_000355.4(TCN2):c.729C>T (p.Val243=) rs780790089 0.00001
NM_000355.4(TCN2):c.735C>T (p.Ser245=) rs755751120 0.00001
NM_000355.4(TCN2):c.741A>G (p.Pro247=) rs1261718498 0.00001
NM_000355.4(TCN2):c.742T>C (p.Leu248=) rs963691753 0.00001
NM_000355.4(TCN2):c.753+14C>T rs776656571 0.00001
NM_000355.4(TCN2):c.753+19del rs767328402 0.00001
NM_000355.4(TCN2):c.753+20G>A rs1203214213 0.00001
NM_000355.4(TCN2):c.754-11T>A rs2087601158 0.00001
NM_000355.4(TCN2):c.754-12C>T rs1427233261 0.00001
NM_000355.4(TCN2):c.754-17C>T rs913335645 0.00001
NM_000355.4(TCN2):c.87T>C (p.His29=) rs1365708322 0.00001
NM_000355.4(TCN2):c.888G>A (p.Leu296=) rs978779268 0.00001
NM_000355.4(TCN2):c.891C>T (p.Asn297=) rs759533329 0.00001
NM_000355.4(TCN2):c.910C>T (p.Leu304=) rs953306184 0.00001
NM_000355.4(TCN2):c.915C>T (p.Ile305=) rs911038185 0.00001
NM_000355.4(TCN2):c.918C>T (p.Phe306=) rs567457027 0.00001
NM_000355.4(TCN2):c.924C>T (p.Asp308=) rs1376577981 0.00001
NM_000355.4(TCN2):c.936A>G (p.Pro312=) rs556448689 0.00001
NM_000355.4(TCN2):c.941-14T>C rs552110112 0.00001
NM_000355.4(TCN2):c.941-17C>G rs749327162 0.00001
NM_000355.4(TCN2):c.99G>A (p.Lys33=) rs1485632884 0.00001
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.1000C>T (p.Leu334=) rs2517912610
NM_000355.4(TCN2):c.1017C>T (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1020G>A (p.Leu340=) rs2517912682
NM_000355.4(TCN2):c.1026G>A (p.Pro342=) rs775736158
NM_000355.4(TCN2):c.1026G>T (p.Pro342=) rs775736158
NM_000355.4(TCN2):c.1041C>A (p.Ile347=) rs750640912
NM_000355.4(TCN2):c.105C>T (p.Gly35=) rs1182829423
NM_000355.4(TCN2):c.1075C>T (p.Leu359=) rs769116695
NM_000355.4(TCN2):c.108G>A (p.Gln36=) rs2087529055
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106+10C>T rs2087630646
NM_000355.4(TCN2):c.1106+11C>G rs2145548417
NM_000355.4(TCN2):c.1106+11C>T rs2145548417
NM_000355.4(TCN2):c.1106+13_1106+19del rs2517912992
NM_000355.4(TCN2):c.1107-11C>G rs375069878
NM_000355.4(TCN2):c.1107-11C>T rs375069878
NM_000355.4(TCN2):c.1107-15C>T rs2517919632
NM_000355.4(TCN2):c.1107-16C>T
NM_000355.4(TCN2):c.1107-17G>T rs2087719776
NM_000355.4(TCN2):c.1107-18T>C rs775444439
NM_000355.4(TCN2):c.1122C>T (p.Ala374=) rs2517919718
NM_000355.4(TCN2):c.1149C>T (p.Ser383=) rs770090669
NM_000355.4(TCN2):c.114C>G (p.Leu38=) rs377673954
NM_000355.4(TCN2):c.1158G>A (p.Gly386=) rs2517919838
NM_000355.4(TCN2):c.1164G>A (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1164G>C (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1167C>G (p.Ala389=)
NM_000355.4(TCN2):c.1179G>A (p.Glu393=) rs765993081
NM_000355.4(TCN2):c.1182C>T (p.Phe394=)
NM_000355.4(TCN2):c.1195C>A (p.Arg399=) rs769817524
NM_000355.4(TCN2):c.1206C>T (p.Asn402=) rs1569045801
NM_000355.4(TCN2):c.120T>C (p.Pro40=) rs2517900078
NM_000355.4(TCN2):c.1222+11G>A rs2517920090
NM_000355.4(TCN2):c.1222+11G>T rs2517920090
NM_000355.4(TCN2):c.1222+19C>T rs2087722409
NM_000355.4(TCN2):c.1223-10_1223-9del rs746256091
NM_000355.4(TCN2):c.1223-15A>C rs779181993
NM_000355.4(TCN2):c.1223-16C>T
NM_000355.4(TCN2):c.1223-18C>G rs552440554
NM_000355.4(TCN2):c.1223-18C>T rs552440554
NM_000355.4(TCN2):c.1223-19G>A
NM_000355.4(TCN2):c.1223-19G>C rs2517926124
NM_000355.4(TCN2):c.1223-22_1223-20del rs1479896470
NM_000355.4(TCN2):c.1223-5T>G rs2517926151
NM_000355.4(TCN2):c.1223-6C>A rs758143653
NM_000355.4(TCN2):c.1223-6C>T rs758143653
NM_000355.4(TCN2):c.1223-8T>C
NM_000355.4(TCN2):c.1227T>C (p.Ile409=) rs2517926165
NM_000355.4(TCN2):c.1251A>C (p.Gly417=) rs2517926231
NM_000355.4(TCN2):c.1266G>A (p.Leu422=) rs2517926257
NM_000355.4(TCN2):c.1284G>A (p.Ter428=) rs2145563752
NM_000355.4(TCN2):c.147C>T (p.His49=)
NM_000355.4(TCN2):c.150G>A (p.Leu50=) rs921002639
NM_000355.4(TCN2):c.153C>T (p.Asn51=) rs932382635
NM_000355.4(TCN2):c.156C>T (p.Pro52=) rs2517900149
NM_000355.4(TCN2):c.159C>T (p.Ser53=) rs771569755
NM_000355.4(TCN2):c.168G>A (p.Val56=) rs2145536712
NM_000355.4(TCN2):c.171C>A (p.Gly57=) rs763376780
NM_000355.4(TCN2):c.171C>T (p.Gly57=) rs763376780
NM_000355.4(TCN2):c.174A>T (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.177C>G (p.Arg59=) rs1385212847
NM_000355.4(TCN2):c.180C>T (p.Leu60=) rs919468097
NM_000355.4(TCN2):c.201C>G (p.Thr67=) rs2517900325
NM_000355.4(TCN2):c.216C>T (p.Tyr72=) rs772065102
NM_000355.4(TCN2):c.253C>T (p.Leu85=)
NM_000355.4(TCN2):c.257+10C>T rs1335095510
NM_000355.4(TCN2):c.257+12CT[2] rs772640991
NM_000355.4(TCN2):c.257+16C>T rs369577877
NM_000355.4(TCN2):c.257+17T>C rs998795295
NM_000355.4(TCN2):c.257+18T>C
NM_000355.4(TCN2):c.257+7C>G rs2517900510
NM_000355.4(TCN2):c.257+7C>T rs2517900510
NM_000355.4(TCN2):c.258-11C>A rs746958412
NM_000355.4(TCN2):c.258-11C>T rs746958412
NM_000355.4(TCN2):c.258-15C>T rs954445153
NM_000355.4(TCN2):c.258-18dup rs2087561140
NM_000355.4(TCN2):c.258-4C>T
NM_000355.4(TCN2):c.258-5C>T
NM_000355.4(TCN2):c.258-8_258-6dup rs1041045435
NM_000355.4(TCN2):c.258-9T>G rs2145540026
NM_000355.4(TCN2):c.288C>T (p.Cys96=) rs2517903343
NM_000355.4(TCN2):c.297G>A (p.Lys99=) rs1255333385
NM_000355.4(TCN2):c.303C>G (p.Ser101=)
NM_000355.4(TCN2):c.312G>A (p.Gln104=) rs2087562378
NM_000355.4(TCN2):c.318C>T (p.Ala106=) rs2087562517
NM_000355.4(TCN2):c.324C>T (p.Tyr108=) rs779779694
NM_000355.4(TCN2):c.327G>A (p.Leu109=) rs748905755
NM_000355.4(TCN2):c.327G>T (p.Leu109=) rs748905755
NM_000355.4(TCN2):c.330C>A (p.Leu110=) rs528481728
NM_000355.4(TCN2):c.342C>T (p.Ala114=) rs2517903536
NM_000355.4(TCN2):c.363C>T (p.Gly121=)
NM_000355.4(TCN2):c.372G>C (p.Gly124=) rs1170593090
NM_000355.4(TCN2):c.381G>A (p.Leu127=) rs2145540343
NM_000355.4(TCN2):c.402C>T (p.Phe134=) rs781606712
NM_000355.4(TCN2):c.427+17C>A rs187924928
NM_000355.4(TCN2):c.427+18G>C rs373712632
NM_000355.4(TCN2):c.427+18G>T rs373712632
NM_000355.4(TCN2):c.427+8G>A rs1272405301
NM_000355.4(TCN2):c.427+8G>T rs1272405301
NM_000355.4(TCN2):c.427+9A>G rs2517903883
NM_000355.4(TCN2):c.428-10T>C rs2145542622
NM_000355.4(TCN2):c.428-11T>G rs2517906296
NM_000355.4(TCN2):c.428-14T>G rs1221271210
NM_000355.4(TCN2):c.428-17_428-16del rs754484246
NM_000355.4(TCN2):c.428-17_428-16dup rs754484246
NM_000355.4(TCN2):c.428-19_428-18del rs753547731
NM_000355.4(TCN2):c.428-19_428-18insG
NM_000355.4(TCN2):c.428-4_428-3del rs1892706504
NM_000355.4(TCN2):c.428-5C>G rs772319341
NM_000355.4(TCN2):c.428-7C>G rs778810764
NM_000355.4(TCN2):c.428-9C>A rs755524582
NM_000355.4(TCN2):c.429G>A (p.Gly143=)
NM_000355.4(TCN2):c.429G>T (p.Gly143=) rs866432912
NM_000355.4(TCN2):c.435T>C (p.Asp145=)
NM_000355.4(TCN2):c.441G>A (p.Lys147=) rs1292573979
NM_000355.4(TCN2):c.462C>T (p.Tyr154=) rs2087582447
NM_000355.4(TCN2):c.474C>G (p.Gly158=) rs2145542793
NM_000355.4(TCN2):c.475C>T (p.Leu159=) rs2517906549
NM_000355.4(TCN2):c.480C>T (p.Gly160=)
NM_000355.4(TCN2):c.484C>T (p.Leu162=) rs1330557305
NM_000355.4(TCN2):c.486G>A (p.Leu162=) rs199546693
NM_000355.4(TCN2):c.489C>T (p.Ala163=) rs766585202
NM_000355.4(TCN2):c.504G>A (p.Gln168=) rs2517906682
NM_000355.4(TCN2):c.513C>G (p.Val171=)
NM_000355.4(TCN2):c.519C>T (p.Asp173=)
NM_000355.4(TCN2):c.525G>C (p.Val175=) rs887827657
NM_000355.4(TCN2):c.538C>T (p.Leu180=) rs1247398599
NM_000355.4(TCN2):c.540G>A (p.Leu180=) rs2517906833
NM_000355.4(TCN2):c.570C>T (p.His190=) rs2517906957
NM_000355.4(TCN2):c.580+10T>C rs2517906995
NM_000355.4(TCN2):c.580+17G>A rs184174370
NM_000355.4(TCN2):c.580+17G>T rs184174370
NM_000355.4(TCN2):c.580+7A>G rs369845700
NM_000355.4(TCN2):c.581-176A>C rs372866837
NM_000355.4(TCN2):c.581-7C>A rs550090290
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8del rs2145544168
NM_000355.4(TCN2):c.582C>T (p.Asp194=) rs762023960
NM_000355.4(TCN2):c.600C>G (p.Gly200=) rs1602048275
NM_000355.4(TCN2):c.609C>T (p.Phe203=) rs1336980912
NM_000355.4(TCN2):c.616C>T (p.Leu206=) rs758284185
NM_000355.4(TCN2):c.65-10C>A rs1260659125
NM_000355.4(TCN2):c.65-10C>T rs1260659125
NM_000355.4(TCN2):c.65-6del rs748765421
NM_000355.4(TCN2):c.65-9T>C rs1036183849
NM_000355.4(TCN2):c.660C>T (p.Thr220=) rs2087597240
NM_000355.4(TCN2):c.666C>T (p.Ala222=) rs1298870517
NM_000355.4(TCN2):c.690C>A (p.Ile230=) rs779288271
NM_000355.4(TCN2):c.691T>C (p.Leu231=) rs772537043
NM_000355.4(TCN2):c.705C>T (p.Thr235=) rs1016983766
NM_000355.4(TCN2):c.708C>G (p.Pro236=) rs762630641
NM_000355.4(TCN2):c.714C>T (p.Gly238=) rs2517908914
NM_000355.4(TCN2):c.720T>C (p.Phe240=) rs368425204
NM_000355.4(TCN2):c.738C>G (p.Thr246=) rs2087598830
NM_000355.4(TCN2):c.753+15C>T rs745908715
NM_000355.4(TCN2):c.753+18G>A rs2517909117
NM_000355.4(TCN2):c.753+7A>G rs758687066
NM_000355.4(TCN2):c.753+9G>A rs2517909090
NM_000355.4(TCN2):c.754-10C>T
NM_000355.4(TCN2):c.754-13A>G rs754588956
NM_000355.4(TCN2):c.754-13_754-10del rs2087601057
NM_000355.4(TCN2):c.754-14C>G rs2087601081
NM_000355.4(TCN2):c.754-4C>A rs72550761
NM_000355.4(TCN2):c.754-8_754-7del rs1569041532
NM_000355.4(TCN2):c.754-9dup rs752115160
NM_000355.4(TCN2):c.756C>T (p.Phe252=) rs142553702
NM_000355.4(TCN2):c.759C>T (p.Leu253=) rs1168382538
NM_000355.4(TCN2):c.768C>A (p.Ser256=)
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.81C>T (p.Asp27=) rs2087528302
NM_000355.4(TCN2):c.828C>T (p.Ala276=) rs762594982
NM_000355.4(TCN2):c.837G>A (p.Gln279=) rs2517909843
NM_000355.4(TCN2):c.843A>T (p.Gly281=) rs979235252
NM_000355.4(TCN2):c.855T>C (p.Asn285=) rs376839271
NM_000355.4(TCN2):c.858T>G (p.Ala286=) rs988793927
NM_000355.4(TCN2):c.861C>T (p.Leu287=) rs754444991
NM_000355.4(TCN2):c.873G>A (p.Gln291=) rs2517909960
NM_000355.4(TCN2):c.879G>A (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.879G>T (p.Leu293=) rs777393779
NM_000355.4(TCN2):c.882C>A (p.Pro294=) rs142689742
NM_000355.4(TCN2):c.885T>C (p.Val295=) rs2517909984
NM_000355.4(TCN2):c.88C>T (p.Leu30=) rs2517899965
NM_000355.4(TCN2):c.900C>T (p.Thr300=) rs1353790175
NM_000355.4(TCN2):c.912G>C (p.Leu304=) rs1475611580
NM_000355.4(TCN2):c.940+10C>A rs1569041802
NM_000355.4(TCN2):c.941-13C>A rs192009509
NM_000355.4(TCN2):c.941-13C>G rs192009509
NM_000355.4(TCN2):c.941-17C>T rs749327162
NM_000355.4(TCN2):c.941-18C>T rs2517912300
NM_000355.4(TCN2):c.941-4A>G rs2517912347
NM_000355.4(TCN2):c.941-5C>T rs2145547981
NM_000355.4(TCN2):c.941-6G>C
NM_000355.4(TCN2):c.941-8T>C rs2145547976
NM_000355.4(TCN2):c.941-9C>T
NM_000355.4(TCN2):c.941-9_941-5del rs1602050074
NM_000355.4(TCN2):c.960T>C (p.Ala320=)
NM_000355.4(TCN2):c.981A>G (p.Gln327=) rs2517912505
NM_000355.4(TCN2):c.987C>A (p.Ile329=) rs755892011

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