ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 1 by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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GUCY2D, 1-BP DEL, 2943G
GUCY2D, 1-BP DEL, 460C
GUCY2D, 1-BP DEL, 693C
NM_000180.3(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.3(GUCY2D):c.1694T>C (p.Phe565Ser) rs61749755

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