ClinVar Miner

List of variants studied for Retinitis pigmentosa by Genetics Research Center, University of Social Welfare and Rehabilitation Sciences

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000350.3(ABCA4):c.2927del (p.Leu976fs) rs863223338
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter) rs863223344
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser) rs863223343
NM_006269.2(RP1):c.679T>G (p.Phe227Val) rs863223340
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169
NM_201253.3(CRB1):c.1459dup (p.Ser487fs) rs863223342
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr) rs863223341

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