ClinVar Miner

List of variants in gene TUBGCP6 reported as pathogenic

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Total variants: 29
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HGVS dbSNP
NM_020461.4(TUBGCP6):c.1587del (p.Cys529fs) rs1555908577
NM_020461.4(TUBGCP6):c.181_182del (p.Met61fs)
NM_020461.4(TUBGCP6):c.1833+1G>A rs886041788
NM_020461.4(TUBGCP6):c.1869del (p.Ile624fs)
NM_020461.4(TUBGCP6):c.1900A>T (p.Lys634Ter)
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975
NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter) rs772174079
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236
NM_020461.4(TUBGCP6):c.2793dup (p.Ser932fs)
NM_020461.4(TUBGCP6):c.3082C>T (p.Gln1028Ter)
NM_020461.4(TUBGCP6):c.3090_3091del (p.Gly1032fs)
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.3392G>A (p.Trp1131Ter)
NM_020461.4(TUBGCP6):c.3473G>A (p.Trp1158Ter)
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.3784_3802del (p.Thr1262fs)
NM_020461.4(TUBGCP6):c.3802_3803dup (p.His1269fs)
NM_020461.4(TUBGCP6):c.3841dup (p.Ala1281fs)
NM_020461.4(TUBGCP6):c.4067G>A (p.Trp1356Ter)
NM_020461.4(TUBGCP6):c.4129_4130dup (p.Glu1378fs)
NM_020461.4(TUBGCP6):c.4175_4176del (p.Thr1392fs)
NM_020461.4(TUBGCP6):c.4234C>T (p.Gln1412Ter)
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020461.4(TUBGCP6):c.4648G>T (p.Gly1550Ter)
NM_020461.4(TUBGCP6):c.538C>T (p.Gln180Ter)
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter) rs192919234
NM_020461.4(TUBGCP6):c.996dup (p.Leu333fs)

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