ClinVar Miner

List of variants reported as uncertain significance for retinitis pigmentosa 25 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00124
NM_001142800.2(EYS):c.7034G>A (p.Arg2345His) rs201304559 0.00055
NM_001142800.2(EYS):c.8789A>G (p.Asp2930Gly) rs201690244 0.00031
NM_001142800.2(EYS):c.91G>A (p.Glu31Lys) rs572189652 0.00003
NM_001142800.2(EYS):c.4943C>A (p.Ser1648Tyr)
NM_001142800.2(EYS):c.6904G>C (p.Val2302Leu)

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