ClinVar Miner

List of variants in gene TUBGCP6 studied for inflammatory disease

Included ClinVar conditions (199):
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81545
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.44745
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270 0.31375
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys) rs5771107 0.12667
NM_020461.4(TUBGCP6):c.4821+20G>A rs11912397 0.11728
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394 0.07404
NM_020461.4(TUBGCP6):c.681C>T (p.Asp227=) rs147321582 0.00971
NM_020461.4(TUBGCP6):c.3396T>C (p.Asn1132=) rs879175668 0.00551
NM_020461.4(TUBGCP6):c.2487C>G (p.Val829=) rs139343360 0.00248
NM_020461.4(TUBGCP6):c.5139C>T (p.His1713=) rs149152116 0.00206
NM_020461.4(TUBGCP6):c.589T>C (p.Ser197Pro) rs138586345 0.00090
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00046
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00025
NM_020461.4(TUBGCP6):c.4507G>A (p.Ala1503Thr) rs200841925 0.00021
NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) rs199582514 0.00010
NM_020461.4(TUBGCP6):c.1340T>C (p.Val447Ala) rs985345843 0.00009
NM_020461.4(TUBGCP6):c.4351C>G (p.Leu1451Val) rs577375585 0.00005
NM_020461.4(TUBGCP6):c.3089C>T (p.Ser1030Leu) rs751897821 0.00004
NM_020461.4(TUBGCP6):c.3469C>T (p.Arg1157Trp) rs764568631 0.00004
NM_020461.4(TUBGCP6):c.4626+4G>A rs771572928 0.00004
NM_020461.4(TUBGCP6):c.5389C>T (p.Arg1797Cys) rs138609686 0.00004
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234 0.00004
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505 0.00003
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs) rs770253928 0.00003
NM_020461.4(TUBGCP6):c.1983+4C>T rs749151104 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236 0.00003
NM_020461.4(TUBGCP6):c.2657G>A (p.Gly886Glu) rs769027529 0.00003
NM_020461.4(TUBGCP6):c.2791C>T (p.Pro931Ser) rs538912634 0.00003
NM_020461.4(TUBGCP6):c.4208A>C (p.Glu1403Ala) rs753473295 0.00003
NM_020461.4(TUBGCP6):c.3551G>A (p.Arg1184Gln) rs139409990 0.00002
NM_020461.4(TUBGCP6):c.4339T>C (p.Leu1447=) rs771701036 0.00002
NM_020461.4(TUBGCP6):c.1225C>T (p.Arg409Cys) rs1282749907 0.00001
NM_020461.4(TUBGCP6):c.1829C>T (p.Pro610Leu) rs557715113 0.00001
NM_020461.4(TUBGCP6):c.2155C>T (p.Arg719Ter) rs776065095 0.00001
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975 0.00001
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu) rs370132155 0.00001
NM_020461.4(TUBGCP6):c.2765T>C (p.Leu922Pro) rs750475050 0.00001
NM_020461.4(TUBGCP6):c.3098G>A (p.Gly1033Asp) rs185642293 0.00001
NM_020461.4(TUBGCP6):c.3308G>A (p.Arg1103Gln) rs199815606 0.00001
NM_020461.4(TUBGCP6):c.3463C>T (p.Arg1155Trp) rs1457740942 0.00001
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter) rs1444906763 0.00001
NM_020461.4(TUBGCP6):c.4001C>T (p.Ser1334Leu) rs778863982 0.00001
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019 0.00001
NM_020461.4(TUBGCP6):c.548A>C (p.Glu183Ala) rs755489573 0.00001
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.3(TUBGCP6):c.[3139C>T];[5140G>A]
NM_020461.4(TUBGCP6):c.1391A>G (p.Lys464Arg) rs774132550
NM_020461.4(TUBGCP6):c.1594T>C (p.Tyr532His) rs754086944
NM_020461.4(TUBGCP6):c.1956C>T (p.Arg652=) rs2519151963
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) rs1422096763
NM_020461.4(TUBGCP6):c.2234dup (p.Lys746fs) rs2147184688
NM_020461.4(TUBGCP6):c.2321G>A (p.Arg774Gln)
NM_020461.4(TUBGCP6):c.2789C>A (p.Pro930His)
NM_020461.4(TUBGCP6):c.2936G>A (p.Ser979Asn)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.317A>T (p.Glu106Val) rs2519212810
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs) rs2519133759
NM_020461.4(TUBGCP6):c.3452T>G (p.Val1151Gly) rs2519135115
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.3689C>G (p.Ser1230Trp) rs201398979
NM_020461.4(TUBGCP6):c.3732C>T (p.His1244=) rs140699312
NM_020461.4(TUBGCP6):c.3834G>A (p.Val1278=)
NM_020461.4(TUBGCP6):c.3868A>C (p.Thr1290Pro) rs2064499588
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs) rs760024638
NM_020461.4(TUBGCP6):c.3914C>A (p.Ala1305Glu) rs534573320
NM_020461.4(TUBGCP6):c.4165_4166del (p.Gln1389fs) rs752869602
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) rs2064470709
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) rs748632851
NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs) rs756544270
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs) rs2519122368
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864
NM_020461.4(TUBGCP6):c.4994A>G (p.Gln1665Arg) rs2519121151
NM_020461.4(TUBGCP6):c.5206G>A (p.Val1736Ile) rs762939715
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5276del (p.Pro1759fs) rs746218503
NM_020461.4(TUBGCP6):c.5320C>T (p.Gln1774Ter)
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_020461.4(TUBGCP6):c.905+1G>C

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