ClinVar Miner

List of variants in gene TUBGCP6 reported as likely pathogenic

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs) rs775659848 0.00008
NM_020461.4(TUBGCP6):c.5168+2T>C rs753289059 0.00007
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.1491+1G>A rs752877550 0.00001
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter) rs1260456579 0.00001
NM_020461.4(TUBGCP6):c.1833+1G>A rs886041788 0.00001
NM_020461.4(TUBGCP6):c.1983+1G>T rs770971683 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.2221_2222del (p.Arg741fs) rs951221380 0.00001
NM_020461.4(TUBGCP6):c.4955-15_4955-2del rs762453492 0.00001
NM_020461.4(TUBGCP6):c.905+1G>A rs951985752 0.00001
NM_020461.4(TUBGCP6):c.906-1G>T rs762988506 0.00001
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.4(TUBGCP6):c.1314del (p.Arg438fs) rs1427049971
NM_020461.4(TUBGCP6):c.1412+2_1412+3del
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
NM_020461.4(TUBGCP6):c.3267_3672del (p.Ser1089fs)
NM_020461.4(TUBGCP6):c.3462_3469dup (p.Arg1157fs)
NM_020461.4(TUBGCP6):c.3883C>T (p.Gln1295Ter) rs1555907270
NM_020461.4(TUBGCP6):c.3893dup (p.Gly1299fs) rs760024638
NM_020461.4(TUBGCP6):c.3907C>T (p.Gln1303Ter)
NM_020461.4(TUBGCP6):c.4003_4017dup (p.Gly1335_Gly1339dup) rs1555907238
NM_020461.4(TUBGCP6):c.4108+2T>C rs1056686381
NM_020461.4(TUBGCP6):c.4167+1G>C rs978007265
NM_020461.4(TUBGCP6):c.4315+1G>A rs2064482125
NM_020461.4(TUBGCP6):c.4484+1G>A rs1439849519
NM_020461.4(TUBGCP6):c.4485-1G>A rs1362074591
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs) rs2064470709
NM_020461.4(TUBGCP6):c.4664del (p.Pro1555fs)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020461.4(TUBGCP6):c.5169-2A>G rs2064448593
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_020461.4(TUBGCP6):c.5276del (p.Pro1759fs) rs746218503
NM_020461.4(TUBGCP6):c.741+1G>A rs1460482736
NM_020461.4(TUBGCP6):c.742-1G>C rs2147213908
NM_020461.4(TUBGCP6):c.905+1G>T rs951985752

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