ClinVar Miner

List of variants reported as uncertain significance for Retinitis pigmentosa 25 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.2023+5G>A rs1287889008 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val) rs1279860809
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg) rs2149624604
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965

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