ClinVar Miner

List of variants in gene RP1 reported as pathogenic for Retinitis pigmentosa

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006269.2(RP1):c.1986del (p.Lys663fs) rs754246929 0.00002
NM_006269.2(RP1):c.1265dup (p.Ala423fs) rs770659908 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006269.2(RP1):c.1183G>T (p.Glu395Ter) rs377463031
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.2056C>T (p.Gln686Ter) rs1554519533
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) rs1806033844
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2172_2185del (p.Ile725fs) rs1554519546
NM_006269.2(RP1):c.2180_2181delinsAA (p.Cys727Ter) rs1585563328
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) rs1585564175
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter) rs1585564369
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.3843del (p.Pro1282fs) rs769601671
NM_006269.2(RP1):c.4218_4221del (p.Glu1407fs) rs1806128576
NM_006269.2(RP1):c.679T>G (p.Phe227Val) rs863223340
NM_006269.2(RP1):c.688G>T (p.Gly230Ter) rs1585559122

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