ClinVar Miner

List of variants in gene RP1 reported as pathogenic for Retinal dystrophy

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2105_2108del (p.Ile702fs) rs1806033441
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2200del (p.Ser734fs) rs1806036718
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727

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