ClinVar Miner

List of variants reported as pathogenic 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: 5
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HGVS dbSNP gnomAD frequency
NM_000330.4(RS1):c.377A>G (p.Asp126Gly)
NM_001142800.2(EYS):c.1260del (p.Asn421fs)
NM_001142800.2(EYS):c.2486del (p.Ile829fs) rs2150076869
NM_001142800.2(EYS):c.7327G>T (p.Glu2443Ter)
NM_001142800.2(EYS):c.7332_7333del (p.Phe2444fs)

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