ClinVar Miner

List of variants in gene GUCY2D reported as benign for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000180.3(GUCY2D):c.1119G>A (p.Val373=) rs56034424
NM_000180.3(GUCY2D):c.2577G>T (p.Pro859=) rs112372281
NM_000180.3(GUCY2D):c.3044-7G>T rs56348143
NM_000180.3(GUCY2D):c.3225-7C>T rs79887212
NM_000180.3(GUCY2D):c.3297G>A (p.Pro1099=) rs142351773

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