ClinVar Miner

List of variants studied for Leber congenital amaurosis 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001

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