ClinVar Miner

List of variants in gene TUBGCP6 reported as pathogenic for Microcephaly and chorioretinopathy, autosomal recessive, 1

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Total variants: 6
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HGVS dbSNP
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter) rs724159975
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly) rs368449236
NM_020461.4(TUBGCP6):c.3163C>T (p.His1055Tyr) rs724159997
NM_020461.4(TUBGCP6):c.3565G>T (p.Gly1189Ter) rs724159976
NM_020461.4(TUBGCP6):c.4333_4334insT (p.His1445fs) rs727502807
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly) rs387907019

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