ClinVar Miner

List of variants reported as likely benign for Transcobalamin II deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 328
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HGVS dbSNP gnomAD frequency
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
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 0.00347
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
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.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000355.4(TCN2):c.257+16C>G rs369577877 0.00028
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 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.258-16A>G rs374013099 0.00018
NM_000355.4(TCN2):c.940+11T>C rs202139921 0.00017
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.500A>T (p.His167Leu) rs200303429 0.00012
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.64+13C>T rs370228236 0.00006
NM_000355.4(TCN2):c.1053C>T (p.Ala351=) rs142555281 0.00005
NM_000355.4(TCN2):c.1272G>A (p.Leu424=) rs560391371 0.00005
NM_000355.4(TCN2):c.279C>T (p.Asp93=) rs138467610 0.00005
NM_000355.4(TCN2):c.114C>T (p.Leu38=) rs377673954 0.00004
NM_000355.4(TCN2):c.225C>T (p.Ser75=) rs776322424 0.00004
NM_000355.4(TCN2):c.282T>C (p.Gly94=) rs766893729 0.00004
NM_000355.4(TCN2):c.1107-10C>T rs764096609 0.00003
NM_000355.4(TCN2):c.753+13C>A rs771453023 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.390G>A (p.Gln130=) rs565849474 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.846C>T (p.Ala282=) rs745306636 0.00002
NM_000355.4(TCN2):c.999G>A (p.Thr333=) rs747578310 0.00002
NM_000355.4(TCN2):c.1062C>T (p.Thr354=) rs770733287 0.00001
NM_000355.4(TCN2):c.1086C>G (p.Ala362=) rs553587653 0.00001
NM_000355.4(TCN2):c.1107-4G>A rs1485846164 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.1230T>C (p.Ala410=) rs1391122960 0.00001
NM_000355.4(TCN2):c.1233C>T (p.Asp411=) rs931753951 0.00001
NM_000355.4(TCN2):c.174A>G (p.Leu58=) rs764601482 0.00001
NM_000355.4(TCN2):c.257+8C>T rs747963904 0.00001
NM_000355.4(TCN2):c.270C>T (p.Ser90=) rs775251694 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.428-7C>T rs778810764 0.00001
NM_000355.4(TCN2):c.428-8C>T rs1412501560 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.567C>T (p.Gly189=) rs143343408 0.00001
NM_000355.4(TCN2):c.612C>T (p.Thr204=) rs1237569304 0.00001
NM_000355.4(TCN2):c.660C>G (p.Thr220=) rs2087597240 0.00001
NM_000355.4(TCN2):c.708C>T (p.Pro236=) rs762630641 0.00001
NM_000355.4(TCN2):c.735C>T (p.Ser245=) rs755751120 0.00001
NM_000355.4(TCN2):c.753+19del rs767328402 0.00001
NM_000355.4(TCN2):c.87T>C (p.His29=) rs1365708322 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.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=)
NM_000355.4(TCN2):c.1017C>T (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
NM_000355.4(TCN2):c.1041C>A (p.Ile347=) rs750640912
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106+10C>T
NM_000355.4(TCN2):c.1106+11C>G
NM_000355.4(TCN2):c.1106+11C>T rs2145548417
NM_000355.4(TCN2):c.1106+13_1106+19del
NM_000355.4(TCN2):c.1106+14C>T
NM_000355.4(TCN2):c.1106+17C>T
NM_000355.4(TCN2):c.1107-11C>G
NM_000355.4(TCN2):c.1107-11C>T rs375069878
NM_000355.4(TCN2):c.1107-15C>T
NM_000355.4(TCN2):c.1107-17G>T
NM_000355.4(TCN2):c.1107-18T>C
NM_000355.4(TCN2):c.1107-6C>T
NM_000355.4(TCN2):c.1107-7T>G
NM_000355.4(TCN2):c.1107-9C>T
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
NM_000355.4(TCN2):c.1164G>A (p.Ala388=) rs147747593
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
NM_000355.4(TCN2):c.1206C>T (p.Asn402=) rs1569045801
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
NM_000355.4(TCN2):c.1222+11G>A
NM_000355.4(TCN2):c.1222+11G>T
NM_000355.4(TCN2):c.1222+19C>T rs2087722409
NM_000355.4(TCN2):c.1223-10_1223-9del
NM_000355.4(TCN2):c.1223-15A>C
NM_000355.4(TCN2):c.1223-18C>G
NM_000355.4(TCN2):c.1223-18C>T
NM_000355.4(TCN2):c.1223-19G>C
NM_000355.4(TCN2):c.1223-20T>C
NM_000355.4(TCN2):c.1223-22_1223-20del
NM_000355.4(TCN2):c.1223-5T>G
NM_000355.4(TCN2):c.1223-6C>A
NM_000355.4(TCN2):c.1223-6C>T
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
NM_000355.4(TCN2):c.1263G>A (p.Glu421=) rs1385370129
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
NM_000355.4(TCN2):c.150G>A (p.Leu50=) rs921002639
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
NM_000355.4(TCN2):c.168G>A (p.Val56=) rs2145536712
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
NM_000355.4(TCN2):c.174A>T (p.Leu58=) rs764601482
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
NM_000355.4(TCN2):c.18C>T (p.Ala6=)
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
NM_000355.4(TCN2):c.21C>T (p.Phe7=)
NM_000355.4(TCN2):c.24C>G (p.Leu8=)
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
NM_000355.4(TCN2):c.257+10C>T
NM_000355.4(TCN2):c.257+12C>T
NM_000355.4(TCN2):c.257+12CT[2]
NM_000355.4(TCN2):c.257+15dup
NM_000355.4(TCN2):c.257+16C>T
NM_000355.4(TCN2):c.257+17T>C
NM_000355.4(TCN2):c.257+7C>G
NM_000355.4(TCN2):c.257+7C>T
NM_000355.4(TCN2):c.258-11C>A rs746958412
NM_000355.4(TCN2):c.258-11C>G
NM_000355.4(TCN2):c.258-11C>T
NM_000355.4(TCN2):c.258-14T>G
NM_000355.4(TCN2):c.258-15C>T
NM_000355.4(TCN2):c.258-18dup
NM_000355.4(TCN2):c.258-9T>G rs2145540026
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
NM_000355.4(TCN2):c.27C>T (p.Phe9=)
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
NM_000355.4(TCN2):c.30T>A (p.Leu10=) rs2145528985
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
NM_000355.4(TCN2):c.33G>A (p.Leu11=)
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
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.423C>T (p.Ala141=)
NM_000355.4(TCN2):c.427+10C>T
NM_000355.4(TCN2):c.427+12C>G
NM_000355.4(TCN2):c.427+17C>A
NM_000355.4(TCN2):c.427+18G>C
NM_000355.4(TCN2):c.427+18G>T rs373712632
NM_000355.4(TCN2):c.427+20T>C
NM_000355.4(TCN2):c.427+7A>G
NM_000355.4(TCN2):c.427+8G>A
NM_000355.4(TCN2):c.427+8G>T
NM_000355.4(TCN2):c.427+9A>G
NM_000355.4(TCN2):c.428-10T>C rs2145542622
NM_000355.4(TCN2):c.428-11T>G
NM_000355.4(TCN2):c.428-14T>G
NM_000355.4(TCN2):c.428-17_428-16del rs754484246
NM_000355.4(TCN2):c.428-17_428-16dup
NM_000355.4(TCN2):c.428-18dup
NM_000355.4(TCN2):c.428-19_428-18del
NM_000355.4(TCN2):c.428-4_428-3del
NM_000355.4(TCN2):c.428-5C>G
NM_000355.4(TCN2):c.428-5C>T
NM_000355.4(TCN2):c.428-7C>G
NM_000355.4(TCN2):c.428-9C>A
NM_000355.4(TCN2):c.428-9C>T
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
NM_000355.4(TCN2):c.486G>A (p.Leu162=) rs199546693
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
NM_000355.4(TCN2):c.525G>C (p.Val175=)
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
NM_000355.4(TCN2):c.54T>C (p.Thr18=)
NM_000355.4(TCN2):c.570C>T (p.His190=)
NM_000355.4(TCN2):c.57G>A (p.Glu19=)
NM_000355.4(TCN2):c.580+10T>C
NM_000355.4(TCN2):c.580+17G>A rs184174370
NM_000355.4(TCN2):c.580+17G>T
NM_000355.4(TCN2):c.580+20C>T
NM_000355.4(TCN2):c.580+7A>G
NM_000355.4(TCN2):c.581-15G>A
NM_000355.4(TCN2):c.581-176A>C
NM_000355.4(TCN2):c.581-176A>G
NM_000355.4(TCN2):c.581-20G>A
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=)
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
NM_000355.4(TCN2):c.609C>T (p.Phe203=) rs1336980912
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
NM_000355.4(TCN2):c.64+12G>A
NM_000355.4(TCN2):c.64+14C>T
NM_000355.4(TCN2):c.64+15T>C
NM_000355.4(TCN2):c.64+16C>G rs2145529135
NM_000355.4(TCN2):c.64+18A>G
NM_000355.4(TCN2):c.64+19T>A
NM_000355.4(TCN2):c.64+20C>T
NM_000355.4(TCN2):c.64+9C>T
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
NM_000355.4(TCN2):c.65-10C>A
NM_000355.4(TCN2):c.65-10C>T
NM_000355.4(TCN2):c.65-6del rs748765421
NM_000355.4(TCN2):c.65-7T>C
NM_000355.4(TCN2):c.65-9T>C
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
NM_000355.4(TCN2):c.690C>A (p.Ile230=) rs779288271
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
NM_000355.4(TCN2):c.705C>T (p.Thr235=) rs1016983766
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
NM_000355.4(TCN2):c.717C>T (p.His239=)
NM_000355.4(TCN2):c.720T>C (p.Phe240=) rs368425204
NM_000355.4(TCN2):c.729C>T (p.Val243=)
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
NM_000355.4(TCN2):c.753+14C>T
NM_000355.4(TCN2):c.753+15C>T
NM_000355.4(TCN2):c.753+18G>A
NM_000355.4(TCN2):c.753+20G>A
NM_000355.4(TCN2):c.753+7A>G rs758687066
NM_000355.4(TCN2):c.753+9G>A
NM_000355.4(TCN2):c.754-11T>A
NM_000355.4(TCN2):c.754-12C>T
NM_000355.4(TCN2):c.754-13A>G rs754588956
NM_000355.4(TCN2):c.754-13_754-10del
NM_000355.4(TCN2):c.754-14C>G
NM_000355.4(TCN2):c.754-17C>T
NM_000355.4(TCN2):c.754-18T>C
NM_000355.4(TCN2):c.754-4C>A rs72550761
NM_000355.4(TCN2):c.754-8A>G
NM_000355.4(TCN2):c.754-8_754-7del
NM_000355.4(TCN2):c.754-9dup
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
NM_000355.4(TCN2):c.843A>T (p.Gly281=) rs979235252
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
NM_000355.4(TCN2):c.858T>G (p.Ala286=) rs988793927
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
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=)
NM_000355.4(TCN2):c.885T>C (p.Val295=)
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
NM_000355.4(TCN2):c.940+10C>A
NM_000355.4(TCN2):c.941-13C>A
NM_000355.4(TCN2):c.941-13C>G
NM_000355.4(TCN2):c.941-14T>C
NM_000355.4(TCN2):c.941-17C>G
NM_000355.4(TCN2):c.941-17C>T
NM_000355.4(TCN2):c.941-18C>T
NM_000355.4(TCN2):c.941-4A>G
NM_000355.4(TCN2):c.941-5C>T
NM_000355.4(TCN2):c.941-8T>C rs2145547976
NM_000355.4(TCN2):c.941-9_941-5del rs1602050074
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
NM_000355.4(TCN2):c.987C>A (p.Ile329=) rs755892011

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