ClinVar Miner

List of variants in gene EYS reported as uncertain significance by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu)
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256

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