ClinVar Miner

List of variants in gene PCARE reported as uncertain significance for Retinitis pigmentosa 54

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser) rs2148415249
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201

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