List of variants in gene EYA1 reported as pathogenic for mandibulofacial dysostosis

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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.1081C>T (p.Arg361Ter)	rs121909202
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_000503.6(EYA1):c.1475+1G>C	rs727503042
NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)	rs2128850318
NM_000503.6(EYA1):c.1510C>T (p.Gln504Ter)
NM_000503.6(EYA1):c.639+1G>A	rs869025180
NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	rs1131691667
NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	rs121909195

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