List of variants in gene EYA1 reported as likely pathogenic for branchiootic syndrome

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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_000503.6(EYA1):c.229C>T (p.Arg77Ter)	rs200164773	0.00001
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_000503.6(EYA1):c.1597+1G>A	rs1563630117
NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)	rs1060499603
NM_000503.6(EYA1):c.1650_1651dup (p.Tyr551fs)	rs2128835296
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	rs397517920
NM_000503.6(EYA1):c.637C>T (p.Gln213Ter)	rs2129000663
NM_000503.6(EYA1):c.639+3A>C

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