ClinVar Miner

List of variants in gene TUBGCP6 reported as likely pathogenic

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Total variants: 20
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HGVS dbSNP
NM_020461.3(TUBGCP6):c.4315+2_4315+3delTG
NM_020461.4(TUBGCP6):c.1075G>A (p.Val359Ile) rs1444741505
NM_020461.4(TUBGCP6):c.1314del (p.Arg438fs) rs1427049971
NM_020461.4(TUBGCP6):c.1519C>T (p.Gln507Ter) rs1260456579
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
NM_020461.4(TUBGCP6):c.1983+1G>T rs770971683
NM_020461.4(TUBGCP6):c.2555C>T (p.Ser852Leu)
NM_020461.4(TUBGCP6):c.2968G>A (p.Gly990Arg) rs1602510452
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.4167+1G>C
NM_020461.4(TUBGCP6):c.4315+1G>A
NM_020461.4(TUBGCP6):c.4484+1G>A
NM_020461.4(TUBGCP6):c.4521del (p.Phe1508fs)
NM_020461.4(TUBGCP6):c.4838dup (p.Asn1613fs)
NM_020461.4(TUBGCP6):c.4955-15_4955-2del rs762453492
NM_020461.4(TUBGCP6):c.5168+2T>C
NM_020461.4(TUBGCP6):c.905+1G>A

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