List of variants in gene TUBGCP6 reported as pathogenic for retinal disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)	rs192919234	0.00004
NM_020461.4(TUBGCP6):c.2546A>G (p.Glu849Gly)	rs368449236	0.00003
NM_020461.4(TUBGCP6):c.2215C>T (p.Arg739Ter)	rs724159975	0.00001
NM_020461.4(TUBGCP6):c.5458T>G (p.Ter1820Gly)	rs387907019	0.00001
NM_020461.4(TUBGCP6):c.1615_1616del (p.Trp539fs)
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

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