ClinVar Miner

List of variants in gene RP1 reported by GeneDx

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Gene type:
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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr) rs2293869 0.33006
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.172C>T (p.Arg58Cys) rs553910154 0.00011
NM_006269.2(RP1):c.4193C>G (p.Ser1398Cys) rs769270937 0.00009
NM_006269.2(RP1):c.320C>A (p.Ser107Tyr) rs754124724 0.00007
NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser) rs762338185 0.00006
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys) rs941588545 0.00006
NM_006269.2(RP1):c.4663G>A (p.Gly1555Arg) rs370101107 0.00006
NM_006269.2(RP1):c.281G>A (p.Arg94His) rs373078077 0.00005
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter) rs779334655 0.00004
NM_006269.2(RP1):c.941C>G (p.Pro314Arg) rs1162719061 0.00004
NM_006269.2(RP1):c.2011A>C (p.Lys671Gln) rs773177329 0.00001
NM_006269.2(RP1):c.402C>G (p.Ser134Arg) rs921415953 0.00001
NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile) rs773570888 0.00001
NM_006269.2(RP1):c.74G>A (p.Arg25His) rs886062989 0.00001
NM_006269.2(RP1):c.139dup (p.Gln47fs) rs751635650
NM_006269.2(RP1):c.1601A>G (p.Lys534Arg) rs2129316192
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.2025dup (p.Ser676fs) rs1365669334
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2035C>T (p.Gln679Ter) rs104894083
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2296C>T (p.Gln766Ter) rs775731489
NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)
NM_006269.2(RP1):c.2570C>G (p.Ser857Ter) rs1057524016
NM_006269.2(RP1):c.2769A>G (p.Ile923Met) rs1064796204
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.6432_6439del (p.Leu2144fs) rs1806219478
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479

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