ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Siriraj Ophthalmic Genetics Research, Faculty of Medicine Siriraj Hospital, Mahidol University

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.7065A>C (p.Glu2355Asp) rs749617474 0.00001
NM_001142800.2(EYS):c.3473G>A (p.Cys1158Tyr)
NM_001142800.2(EYS):c.9197T>C (p.Leu3066Pro)

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