ClinVar Miner

List of variants in gene combination GPHN, RDH12 reported as benign for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln)	rs17852293	0.12044
NM_152443.3(RDH12):c.570C>T (p.Ser190=)	rs79869437	0.00041

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