ClinVar Miner

List of variants reported as benign for Leber congenital amaurosis 13

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_152443.3(RDH12):c.344-115G>C rs7156725 0.93203
NM_152443.3(RDH12):c.187+60G>A rs61991867 0.54260
NM_152443.3(RDH12):c.482G>A (p.Arg161Gln) rs17852293 0.12044
NM_152443.3(RDH12):c.264G>A (p.Lys88=) rs149522949 0.00092
NM_152443.3(RDH12):c.659-12T>C rs77686476 0.00091
NM_152443.3(RDH12):c.848+14A>C rs535122314 0.00058
NM_152443.3(RDH12):c.570C>T (p.Ser190=) rs79869437 0.00041
NM_152443.3(RDH12):c.931C>T (p.Leu311=) rs201458213

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