ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_000350.3(ABCA4):c.5824G>C (p.Glu1942Gln) rs760353830 0.00003
NM_000350.3(ABCA4):c.6282+3A>T

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