ClinVar Miner

List of variants in gene EYS reported as likely pathogenic by Sema4, Sema4

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667

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