ClinVar Miner

List of variants in gene RGR reported as uncertain significance by Dept Of Ophthalmology, Nagoya University

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001012720.2(RGR):c.110C>T (p.Thr37Ile) rs774849552 0.00010
NM_001012720.2(RGR):c.135G>A (p.Pro45=) rs753086873 0.00003
NM_001012720.2(RGR):c.108G>A (p.Leu36=) rs192942325 0.00002
NM_001012720.2(RGR):c.392T>C (p.Leu131Pro) rs2492638744
NM_001012720.2(RGR):c.488C>T (p.Thr163Ile) rs1181205087
NM_001012720.2(RGR):c.5C>T (p.Ala2Val) rs1842730590
NM_001012720.2(RGR):c.621C>G (p.Gly207=) rs1462377449
NM_001012720.2(RGR):c.685A>G (p.Ile229Val) rs540094720
NM_001012720.2(RGR):c.766A>G (p.Met256Val) rs1842916341
NM_001012720.2(RGR):c.777G>T (p.Thr259=) rs775359009

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