ClinVar Miner

List of variants in gene TBCD studied for Mendelian encephalopathy

Included ClinVar conditions (29):
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Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly) rs3785522 0.86955
NM_005993.5(TBCD):c.3281+17G>A rs8079398 0.53216
NM_005993.5(TBCD):c.1319-43G>A rs3744161 0.52012
NM_005993.5(TBCD):c.3191+27T>C rs898095 0.49748
NM_005993.5(TBCD):c.1850T>C (p.Met617Thr) rs2292971 0.48628
NM_005993.5(TBCD):c.3486G>A (p.Ala1162=) rs9390 0.42031
NM_005993.5(TBCD):c.2859T>C (p.Asp953=) rs1127986 0.25255
NM_005993.5(TBCD):c.2853-44G>A rs729123 0.10053
NM_005993.5(TBCD):c.1475+25C>T rs74530485 0.10021
NM_005993.5(TBCD):c.28G>T (p.Gly10Cys) rs11550062 0.09665
NM_005993.5(TBCD):c.2852+3A>G rs187081192 0.00300
NM_005993.5(TBCD):c.2566A>G (p.Met856Val) rs202149526 0.00153
NM_005993.5(TBCD):c.1057G>A (p.Asp353Asn) rs189185507 0.00096
NM_005993.5(TBCD):c.2239G>A (p.Glu747Lys) rs34791072 0.00084
NM_005993.5(TBCD):c.3447C>T (p.Asp1149=) rs183455339 0.00041
NM_005993.5(TBCD):c.2582C>T (p.Thr861Met) rs370658754 0.00022
NM_005993.5(TBCD):c.2327C>T (p.Ser776Leu) rs186699341 0.00019
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) rs369672739 0.00017
NM_005993.5(TBCD):c.1324G>A (p.Ala442Thr) rs373604816 0.00009
NM_005993.5(TBCD):c.2273C>T (p.Thr758Met) rs374216515 0.00008
NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile) rs375374940 0.00008
NM_005993.5(TBCD):c.1433A>G (p.Tyr478Cys) rs756576748 0.00006
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys) rs778041055 0.00006
NM_005993.5(TBCD):c.2293C>T (p.Arg765Trp) rs547091970 0.00005
NM_005993.5(TBCD):c.2764G>A (p.Ala922Thr) rs745410700 0.00005
NM_005993.5(TBCD):c.3365C>T (p.Pro1122Leu) rs755177846 0.00005
NM_005993.5(TBCD):c.29G>A (p.Gly10Asp) rs533171147 0.00004
NM_005993.5(TBCD):c.3562C>T (p.Gln1188Ter) rs780053410 0.00004
NM_005993.5(TBCD):c.1327G>A (p.Val443Met) rs541763206 0.00003
NM_005993.5(TBCD):c.1589T>C (p.Ile530Thr) rs756308366 0.00003
NM_005993.5(TBCD):c.1615G>A (p.Val539Ile) rs550172307 0.00003
NM_005993.5(TBCD):c.1927G>A (p.Val643Ile) rs199679092 0.00003
NM_005993.5(TBCD):c.2770G>A (p.Val924Met) rs374323372 0.00003
NM_005993.5(TBCD):c.2991+8G>A rs370259014 0.00003
NM_005993.5(TBCD):c.320A>G (p.Tyr107Cys) rs747070586 0.00003
NM_005993.5(TBCD):c.1087+5G>A rs374775577 0.00002
NM_005993.5(TBCD):c.1130G>A (p.Arg377Gln) rs764085684 0.00001
NM_005993.5(TBCD):c.1224-2A>G rs1161413517 0.00001
NM_005993.5(TBCD):c.1255G>A (p.Gly419Arg) rs762115783 0.00001
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val) rs1311737177 0.00001
NM_005993.5(TBCD):c.1423G>A (p.Ala475Thr) rs775014444 0.00001
NM_005993.5(TBCD):c.1720C>T (p.His574Tyr) rs771477529 0.00001
NM_005993.5(TBCD):c.2006+5G>A rs1284192515 0.00001
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865 0.00001
NM_005993.5(TBCD):c.2429G>C (p.Ser810Thr) rs752473581 0.00001
NM_005993.5(TBCD):c.2690A>G (p.His897Arg) rs745875454 0.00001
NM_005993.5(TBCD):c.2761G>A (p.Ala921Thr) rs886041085 0.00001
NM_005993.5(TBCD):c.2780C>T (p.Thr927Met) rs370298242 0.00001
NM_005993.5(TBCD):c.2789A>G (p.His930Arg) rs775950678 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_005993.5(TBCD):c.3511C>T (p.Arg1171Cys) rs1265837740 0.00001
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile) rs767635450 0.00001
NM_005993.5(TBCD):c.3550C>T (p.Gln1184Ter) rs754168355 0.00001
NM_005993.5(TBCD):c.686T>G (p.Leu229Arg) rs778417127 0.00001
NM_005993.5(TBCD):c.880C>T (p.Arg294Trp) rs1064796675 0.00001
NM_005993.5(TBCD):c.907C>T (p.Arg303Ter) rs751190601 0.00001
NM_005993.5(TBCD):c.967C>T (p.Arg323Ter) rs773790897 0.00001
NM_005993.4(TBCD):c.1150_1171del rs751754677
NM_005993.5(TBCD):c.1006C>T (p.Gln336Ter) rs1325049235
NM_005993.5(TBCD):c.10A>T (p.Ser4Cys) rs2510347955
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_005993.5(TBCD):c.1160T>G (p.Met387Arg) rs886041086
NM_005993.5(TBCD):c.1399G>A (p.Ala467Thr) rs1567926154
NM_005993.5(TBCD):c.1504C>G (p.Arg502Gly) rs752953575
NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr) rs1567966866
NM_005993.5(TBCD):c.1564-12C>G rs886041084
NM_005993.5(TBCD):c.1604A>C (p.Asp535Ala) rs2510182547
NM_005993.5(TBCD):c.1661C>T (p.Ala554Val) rs1555641324
NM_005993.5(TBCD):c.1712A>G (p.Lys571Arg) rs758413695
NM_005993.5(TBCD):c.1723_1724dup (p.Trp575fs)
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln) rs780523169
NM_005993.5(TBCD):c.1876G>A (p.Ala626Thr) rs749225304
NM_005993.5(TBCD):c.1957C>T (p.Gln653Ter) rs2060355104
NM_005993.5(TBCD):c.2007-2A>G rs2146947108
NM_005993.5(TBCD):c.2038+41C>G rs12601746
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034
NM_005993.5(TBCD):c.214C>T (p.His72Tyr) rs2047391529
NM_005993.5(TBCD):c.2164C>T (p.Arg722Cys) rs548213550
NM_005993.5(TBCD):c.2209T>C (p.Cys737Arg) rs1568053442
NM_005993.5(TBCD):c.2260G>T (p.Glu754Ter)
NM_005993.5(TBCD):c.2280C>A (p.Tyr760Ter) rs754750539
NM_005993.5(TBCD):c.2302GAG[1] (p.Glu769del) rs2061632089
NM_005993.5(TBCD):c.230A>G (p.His77Arg) rs1409600874
NM_005993.5(TBCD):c.2380-1G>A rs1599617641
NM_005993.5(TBCD):c.2464A>G (p.Ile822Val) rs2061771729
NM_005993.5(TBCD):c.2472-2A>G rs2510734532
NM_005993.5(TBCD):c.2560G>A (p.Gly854Ser) rs2510736504
NM_005993.5(TBCD):c.2579C>T (p.Thr860Ile) rs1369909567
NM_005993.5(TBCD):c.2693+1G>A rs779861227
NM_005993.5(TBCD):c.2701_2718dup (p.Val906_Ala907insArgIleMetCysCysVal) rs2510757565
NM_005993.5(TBCD):c.2792_2793insG (p.Phe931fs)
NM_005993.5(TBCD):c.2804C>G (p.Pro935Arg) rs771721082
NM_005993.5(TBCD):c.2810C>G (p.Pro937Arg) rs886041087
NM_005993.5(TBCD):c.2892_2901del (p.Gln964fs)
NM_005993.5(TBCD):c.2983del (p.Glu995fs) rs1568075346
NM_005993.5(TBCD):c.3008A>G (p.Gln1003Arg) rs1380543165
NM_005993.5(TBCD):c.3121G>A (p.Val1041Met) rs767059052
NM_005993.5(TBCD):c.3194A>G (p.His1065Arg) rs2062710087
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp) rs2062710977
NM_005993.5(TBCD):c.3311_3320delinsGT (p.Asp1104fs)
NM_005993.5(TBCD):c.345_346del (p.Tyr115_Lys116delinsTer) rs2510548443
NM_005993.5(TBCD):c.3479+11G>A rs1276630036
NM_005993.5(TBCD):c.3483C>T (p.Asp1161=) rs368808896
NM_005993.5(TBCD):c.3512G>T (p.Arg1171Leu) rs775453008
NM_005993.5(TBCD):c.390G>C (p.Glu130Asp) rs2048013005
NM_005993.5(TBCD):c.435+1del
NM_005993.5(TBCD):c.452A>C (p.Tyr151Ser)
NM_005993.5(TBCD):c.950+2T>C
NM_005993.5(TBCD):c.951-2A>G rs2050922982

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