ClinVar Miner

List of variants in gene EYA1 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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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.1597+1G>A rs1563630117
NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) rs397517920

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