ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 1 by Ocular Genomics Institute, Massachusetts Eye and Ear

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu)	rs1236572248	0.00001
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu)	rs1248867031

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