ClinVar Miner

List of variants studied for RDH12-related recessive retinopathy by Genome-Nilou Lab

Included ClinVar conditions (2):
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Total variants: 6
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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.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_152443.3(RDH12):c.92G>A (p.Cys31Tyr) rs746979841 0.00001
NM_152443.3(RDH12):c.345G>C (p.Glu115Asp) rs2038181425

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