ClinVar Miner

List of variants reported as likely pathogenic for Leber congenital amaurosis by Rui Chen Lab, Baylor College of Medicine

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001080442.3(SLC38A8):c.388+5G>A	rs760391436	0.00014
NM_006915.3(RP2):c.102G>A (p.Lys34=)	rs1556313552

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