ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.1001T>G (p.Leu334Arg)
NM_000180.4(GUCY2D):c.1762C>T (p.Arg588Trp)
NM_000180.4(GUCY2D):c.815C>T (p.Ser272Phe)

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