ClinVar Miner

List of variants studied for retinitis pigmentosa 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.4353-8T>G
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.5921del (p.Ala1974fs) rs1806199541

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