ClinVar Miner

List of variants in gene EYS studied for Retinitis Pigmentosa, Recessive

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_001142800.2(EYS):c.8080A>G (p.Ile2694Val) rs35504565 0.00029
NM_001142800.2(EYS):c.5883T>G (p.Thr1961=) rs779530881 0.00016
NM_001142800.2(EYS):c.1460-5dup rs771064426
NM_001142800.2(EYS):c.2023+15del rs35045551
NM_001142800.2(EYS):c.2023+15dup rs35045551
NM_001142800.2(EYS):c.3905A>G (p.His1302Arg) rs886061676
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170

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