ClinVar Miner

List of variants in gene TUBGCP6 studied for Inborn genetic diseases

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Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.1612G>A (p.Asp538Asn) rs139934957 0.00230
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu) rs142435821 0.00062
NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr) rs148601529 0.00048
NM_020461.4(TUBGCP6):c.3288T>G (p.Asp1096Glu) rs6010209 0.00045
NM_020461.4(TUBGCP6):c.3043G>A (p.Glu1015Lys) rs149701689 0.00034
NM_020461.4(TUBGCP6):c.1339G>A (p.Val447Ile) rs182347943 0.00033
NM_020461.4(TUBGCP6):c.4747G>A (p.Ala1583Thr) rs138207892 0.00028
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu) rs137934849 0.00019
NM_020461.4(TUBGCP6):c.3544C>T (p.Arg1182Trp) rs200003944 0.00012
NM_020461.4(TUBGCP6):c.2473G>A (p.Val825Met) rs143355923 0.00011
NM_020461.4(TUBGCP6):c.3389G>T (p.Arg1130Leu) rs140384240 0.00011
NM_020461.4(TUBGCP6):c.3958C>T (p.Arg1320Trp) rs149423531 0.00011
NM_020461.4(TUBGCP6):c.4457G>A (p.Arg1486His) rs140730243 0.00011
NM_020461.4(TUBGCP6):c.4955-4C>T rs757193488 0.00011
NM_020461.4(TUBGCP6):c.1894G>C (p.Glu632Gln) rs199582514 0.00010
NM_020461.4(TUBGCP6):c.431C>T (p.Pro144Leu) rs199680833 0.00008
NM_020461.4(TUBGCP6):c.4914G>A (p.Met1638Ile) rs367985017 0.00008
NM_020461.4(TUBGCP6):c.1451C>T (p.Pro484Leu) rs147922469 0.00007
NM_020461.4(TUBGCP6):c.1453G>A (p.Gly485Ser) rs369954687 0.00007
NM_020461.4(TUBGCP6):c.2318G>A (p.Arg773His) rs139125978 0.00007
NM_020461.4(TUBGCP6):c.3821C>T (p.Pro1274Leu) rs372985169 0.00007
NM_020461.4(TUBGCP6):c.1789G>A (p.Val597Ile) rs201914434 0.00006
NM_020461.4(TUBGCP6):c.1991G>A (p.Arg664His) rs375024698 0.00006
NM_020461.4(TUBGCP6):c.4342C>T (p.Arg1448Cys) rs778946294 0.00006
NM_020461.4(TUBGCP6):c.4520T>A (p.Phe1507Tyr) rs146136859 0.00006
NM_020461.4(TUBGCP6):c.4700A>G (p.Gln1567Arg) rs149368919 0.00006
NM_020461.4(TUBGCP6):c.984A>C (p.Gln328His) rs369841316 0.00006
NM_020461.4(TUBGCP6):c.1600C>T (p.Arg534Trp) rs141823240 0.00005
NM_020461.4(TUBGCP6):c.574A>C (p.Thr192Pro) rs756893749 0.00005
NM_020461.4(TUBGCP6):c.1153G>A (p.Val385Met) rs772405798 0.00004
NM_020461.4(TUBGCP6):c.1304G>A (p.Gly435Asp) rs368378157 0.00004
NM_020461.4(TUBGCP6):c.3646G>A (p.Gly1216Arg) rs199766792 0.00004
NM_020461.4(TUBGCP6):c.3902C>T (p.Thr1301Met) rs751346612 0.00004
NM_020461.4(TUBGCP6):c.4253A>C (p.Tyr1418Ser) rs200427761 0.00004
NM_020461.4(TUBGCP6):c.4736A>G (p.Asn1579Ser) rs769431336 0.00004
NM_020461.4(TUBGCP6):c.1100C>T (p.Thr367Met) rs750083119 0.00003
NM_020461.4(TUBGCP6):c.1249C>A (p.Pro417Thr) rs749133840 0.00003
NM_020461.4(TUBGCP6):c.221C>T (p.Ser74Phe) rs1248236855 0.00002
NM_020461.4(TUBGCP6):c.3071G>A (p.Arg1024Gln) rs371211872 0.00002
NM_020461.4(TUBGCP6):c.3254A>G (p.Asn1085Ser) rs1020548875 0.00002
NM_020461.4(TUBGCP6):c.3841G>T (p.Ala1281Ser) rs370490130 0.00002
NM_020461.4(TUBGCP6):c.4426G>A (p.Glu1476Lys) rs768551166 0.00002
NM_020461.4(TUBGCP6):c.5009A>T (p.Lys1670Met) rs546390532 0.00002
NM_020461.4(TUBGCP6):c.5107G>A (p.Val1703Met) rs750468397 0.00002
NM_020461.4(TUBGCP6):c.5266T>G (p.Trp1756Gly) rs773173311 0.00002
NM_020461.4(TUBGCP6):c.2083C>T (p.Arg695Trp) rs771442117 0.00001
NM_020461.4(TUBGCP6):c.2903G>T (p.Gly968Val) rs773900510 0.00001
NM_020461.4(TUBGCP6):c.3470G>A (p.Arg1157Gln) rs760242683 0.00001
NM_020461.4(TUBGCP6):c.3632G>A (p.Arg1211Gln) rs370735400 0.00001
NM_020461.4(TUBGCP6):c.3636G>T (p.Trp1212Cys) rs1307570133 0.00001
NM_020461.4(TUBGCP6):c.3727G>A (p.Gly1243Arg) rs773245723 0.00001
NM_020461.4(TUBGCP6):c.3755T>C (p.Leu1252Ser) rs199869874 0.00001
NM_020461.4(TUBGCP6):c.4076A>G (p.Asn1359Ser) rs142894029 0.00001
NM_020461.4(TUBGCP6):c.4082C>T (p.Pro1361Leu) rs374905114 0.00001
NM_020461.4(TUBGCP6):c.4199G>A (p.Arg1400His) rs745344235 0.00001
NM_020461.4(TUBGCP6):c.4327A>G (p.Ile1443Val) rs967392340 0.00001
NM_020461.4(TUBGCP6):c.445G>A (p.Asp149Asn) rs749460077 0.00001
NM_020461.4(TUBGCP6):c.4762C>T (p.Pro1588Ser) rs778198550 0.00001
NM_020461.4(TUBGCP6):c.5197G>A (p.Val1733Ile) rs775546712 0.00001
NM_020461.4(TUBGCP6):c.5402C>T (p.Pro1801Leu) rs373541807 0.00001
NM_020461.4(TUBGCP6):c.880C>T (p.Arg294Trp) rs961023483 0.00001
NM_020461.4(TUBGCP6):c.1048T>C (p.Cys350Arg)
NM_020461.4(TUBGCP6):c.1080G>C (p.Leu360Phe) rs565592866
NM_020461.4(TUBGCP6):c.1279C>T (p.Leu427Phe)
NM_020461.4(TUBGCP6):c.1595A>C (p.Tyr532Ser)
NM_020461.4(TUBGCP6):c.1627G>A (p.Gly543Arg)
NM_020461.4(TUBGCP6):c.1649G>T (p.Gly550Val)
NM_020461.4(TUBGCP6):c.1723C>T (p.Leu575Phe)
NM_020461.4(TUBGCP6):c.1771A>T (p.Ile591Phe)
NM_020461.4(TUBGCP6):c.1794C>G (p.Cys598Trp)
NM_020461.4(TUBGCP6):c.1874C>T (p.Ser625Leu)
NM_020461.4(TUBGCP6):c.1937G>A (p.Arg646His)
NM_020461.4(TUBGCP6):c.2090C>T (p.Ala697Val) rs1601589825
NM_020461.4(TUBGCP6):c.2101C>T (p.Arg701Trp)
NM_020461.4(TUBGCP6):c.2187T>A (p.Asp729Glu)
NM_020461.4(TUBGCP6):c.2257G>A (p.Glu753Lys)
NM_020461.4(TUBGCP6):c.2284G>A (p.Asp762Asn)
NM_020461.4(TUBGCP6):c.2471G>A (p.Ser824Asn)
NM_020461.4(TUBGCP6):c.2494C>G (p.Pro832Ala)
NM_020461.4(TUBGCP6):c.2510C>T (p.Pro837Leu)
NM_020461.4(TUBGCP6):c.2684G>T (p.Ser895Ile)
NM_020461.4(TUBGCP6):c.2728G>A (p.Val910Met) rs745309410
NM_020461.4(TUBGCP6):c.2732A>C (p.Gln911Pro)
NM_020461.4(TUBGCP6):c.2747del (p.Pro916fs)
NM_020461.4(TUBGCP6):c.2753T>C (p.Leu918Pro)
NM_020461.4(TUBGCP6):c.2792C>A (p.Pro931His)
NM_020461.4(TUBGCP6):c.2822C>G (p.Ala941Gly)
NM_020461.4(TUBGCP6):c.3227G>A (p.Arg1076Gln)
NM_020461.4(TUBGCP6):c.3374C>T (p.Ala1125Val)
NM_020461.4(TUBGCP6):c.3441_3521del (p.Val1151_Asp1177del)
NM_020461.4(TUBGCP6):c.3454G>A (p.Ala1152Thr)
NM_020461.4(TUBGCP6):c.3545G>A (p.Arg1182Gln)
NM_020461.4(TUBGCP6):c.3625C>T (p.Arg1209Trp) rs113811007
NM_020461.4(TUBGCP6):c.3721A>G (p.Thr1241Ala)
NM_020461.4(TUBGCP6):c.3732C>G (p.His1244Gln) rs140699312
NM_020461.4(TUBGCP6):c.3741C>A (p.Asp1247Glu) rs147606883
NM_020461.4(TUBGCP6):c.3784A>G (p.Thr1262Ala)
NM_020461.4(TUBGCP6):c.3901A>G (p.Thr1301Ala)
NM_020461.4(TUBGCP6):c.3914C>T (p.Ala1305Val) rs534573320
NM_020461.4(TUBGCP6):c.3980C>A (p.Pro1327Gln)
NM_020461.4(TUBGCP6):c.4108+6_4108+7del rs554870008
NM_020461.4(TUBGCP6):c.4118G>A (p.Arg1373Lys)
NM_020461.4(TUBGCP6):c.4157T>C (p.Leu1386Pro)
NM_020461.4(TUBGCP6):c.427G>T (p.Val143Phe)
NM_020461.4(TUBGCP6):c.4322C>T (p.Pro1441Leu) rs201730639
NM_020461.4(TUBGCP6):c.4348G>A (p.Val1450Met)
NM_020461.4(TUBGCP6):c.4375G>A (p.Val1459Met) rs537198714
NM_020461.4(TUBGCP6):c.4378G>A (p.Asp1460Asn)
NM_020461.4(TUBGCP6):c.4490C>T (p.Ser1497Phe)
NM_020461.4(TUBGCP6):c.450C>G (p.Cys150Trp)
NM_020461.4(TUBGCP6):c.4516T>G (p.Tyr1506Asp)
NM_020461.4(TUBGCP6):c.4520T>C (p.Phe1507Ser)
NM_020461.4(TUBGCP6):c.4538T>A (p.Leu1513Gln)
NM_020461.4(TUBGCP6):c.4621G>A (p.Glu1541Lys)
NM_020461.4(TUBGCP6):c.4623G>C (p.Glu1541Asp)
NM_020461.4(TUBGCP6):c.4648G>A (p.Gly1550Arg)
NM_020461.4(TUBGCP6):c.4817A>G (p.Tyr1606Cys)
NM_020461.4(TUBGCP6):c.5071G>A (p.Val1691Ile)
NM_020461.4(TUBGCP6):c.50C>T (p.Pro17Leu)
NM_020461.4(TUBGCP6):c.5169-4C>T
NM_020461.4(TUBGCP6):c.5192C>T (p.Ala1731Val)
NM_020461.4(TUBGCP6):c.5254A>G (p.Ile1752Val)
NM_020461.4(TUBGCP6):c.5261A>C (p.Gln1754Pro)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5330A>G (p.Tyr1777Cys)
NM_020461.4(TUBGCP6):c.5388C>G (p.Asn1796Lys)
NM_020461.4(TUBGCP6):c.563C>G (p.Thr188Ser)
NM_020461.4(TUBGCP6):c.5C>T (p.Ala2Val)
NM_020461.4(TUBGCP6):c.602C>G (p.Pro201Arg)
NM_020461.4(TUBGCP6):c.610G>C (p.Asp204His)
NM_020461.4(TUBGCP6):c.698C>T (p.Pro233Leu) rs2064878715
NM_020461.4(TUBGCP6):c.826G>A (p.Val276Met)

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