ClinVar Miner

List of variants in gene RP1 studied for Retinal dystrophy

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Total variants: 125
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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.2615G>A (p.Arg872His) rs444772 0.24558
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_006269.2(RP1):c.2245C>T (p.Leu749Phe) rs147990983 0.00147
NM_006269.2(RP1):c.1187G>A (p.Arg396Gln) rs141279458 0.00138
NM_006269.2(RP1):c.6167G>A (p.Gly2056Asp) rs35327842 0.00135
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_006269.2(RP1):c.4563C>T (p.Asn1521=) rs150524359 0.00056
NM_006269.2(RP1):c.2116G>C (p.Gly706Arg) rs199879316 0.00014
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) rs201110322 0.00009
NM_006269.2(RP1):c.3024G>A (p.Gln1008=) rs555160408 0.00009
NM_006269.2(RP1):c.2794A>G (p.Ile932Val) rs373573589 0.00006
NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser) rs762338185 0.00006
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_006269.2(RP1):c.2923A>G (p.Ile975Val) rs202016292 0.00005
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006269.2(RP1):c.3155T>C (p.Val1052Ala) rs546212290 0.00004
NM_006269.2(RP1):c.256C>A (p.Pro86Thr) rs757674289 0.00003
NM_006269.2(RP1):c.515T>G (p.Leu172Arg) rs180729424 0.00003
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_006269.2(RP1):c.164T>A (p.Val55Asp) rs1446992624 0.00002
NM_006269.2(RP1):c.2951A>G (p.Asp984Gly) rs200135800 0.00002
NM_006269.2(RP1):c.4781A>G (p.Tyr1594Cys) rs749707126 0.00002
NM_006269.2(RP1):c.6165C>T (p.Ser2055=) rs145661075 0.00002
NM_006269.2(RP1):c.6353G>A (p.Ser2118Asn) rs753732597 0.00002
NM_006269.2(RP1):c.1333C>T (p.Arg445Cys) rs575855591 0.00001
NM_006269.2(RP1):c.1412C>T (p.Ser471Phe) rs1000614416 0.00001
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr) rs756250298 0.00001
NM_006269.2(RP1):c.3142G>A (p.Glu1048Lys) rs1395396475 0.00001
NM_006269.2(RP1):c.314T>C (p.Leu105Pro) rs760751066 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006269.2(RP1):c.598G>C (p.Ala200Pro) rs757348446 0.00001
NM_006269.2(RP1):c.1001dup (p.Met335fs)
NM_006269.2(RP1):c.1047G>A (p.Trp349Ter) rs1805986090
NM_006269.2(RP1):c.1078A>C (p.Asn360His)
NM_006269.2(RP1):c.1112G>T (p.Gly371Val)
NM_006269.2(RP1):c.1138T>A (p.Leu380Ile)
NM_006269.2(RP1):c.1185G>C (p.Glu395Asp) rs1260364554
NM_006269.2(RP1):c.1193G>A (p.Ser398Asn)
NM_006269.2(RP1):c.129C>T (p.Ser43=)
NM_006269.2(RP1):c.1435A>G (p.Met479Val) rs760158770
NM_006269.2(RP1):c.1451C>A (p.Ser484Ter) rs1563329888
NM_006269.2(RP1):c.1462del (p.Glu488fs) rs878853327
NM_006269.2(RP1):c.1496A>C (p.His499Pro)
NM_006269.2(RP1):c.1566C>G (p.Asn522Lys)
NM_006269.2(RP1):c.1598_1601del (p.Arg533fs) rs878853329
NM_006269.2(RP1):c.1719_1723del (p.Ser574fs) rs750542962
NM_006269.2(RP1):c.1721C>G (p.Ser574Ter) rs1806020324
NM_006269.2(RP1):c.1883A>G (p.Glu628Gly)
NM_006269.2(RP1):c.190G>A (p.Asp64Asn)
NM_006269.2(RP1):c.1981G>T (p.Glu661Ter)
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2065C>T (p.Gln689Ter)
NM_006269.2(RP1):c.2105_2108del (p.Ile702fs) rs1806033441
NM_006269.2(RP1):c.2160C>T (p.Pro720=)
NM_006269.2(RP1):c.2167G>T (p.Gly723Ter) rs1585563283
NM_006269.2(RP1):c.2185G>T (p.Glu729Ter)
NM_006269.2(RP1):c.2200del (p.Ser734fs) rs1806036718
NM_006269.2(RP1):c.2219C>A (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2232T>A (p.Cys744Ter) rs1806037949
NM_006269.2(RP1):c.2252C>T (p.Ser751Phe)
NM_006269.2(RP1):c.2285_2289del (p.Leu762fs) rs869320726
NM_006269.2(RP1):c.2305A>T (p.Lys769Ter) rs1488237523
NM_006269.2(RP1):c.2336_2337del (p.Lys778_Ser779insTer)
NM_006269.2(RP1):c.2360T>A (p.Leu787Ter) rs1806043158
NM_006269.2(RP1):c.2374A>T (p.Lys792Ter) rs1365908727
NM_006269.2(RP1):c.2377A>G (p.Arg793Gly)
NM_006269.2(RP1):c.2430C>A (p.Cys810Ter) rs1230883512
NM_006269.2(RP1):c.2560del (p.Ser854fs)
NM_006269.2(RP1):c.2592_2596del (p.Thr865fs)
NM_006269.2(RP1):c.2597del (p.Thr865_Leu866insTer)
NM_006269.2(RP1):c.2599A>C (p.Lys867Gln)
NM_006269.2(RP1):c.2599A>T (p.Lys867Ter)
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.2671del (p.Arg891fs) rs1806057300
NM_006269.2(RP1):c.2704G>A (p.Asp902Asn)
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter) rs878853326
NM_006269.2(RP1):c.2756G>A (p.Trp919Ter) rs779290365
NM_006269.2(RP1):c.2757G>A (p.Trp919Ter) rs746396730
NM_006269.2(RP1):c.2757G>T (p.Trp919Cys) rs746396730
NM_006269.2(RP1):c.2759T>G (p.Leu920Trp) rs1806061278
NM_006269.2(RP1):c.2830G>A (p.Val944Met)
NM_006269.2(RP1):c.2933T>A (p.Ile978Asn)
NM_006269.2(RP1):c.2947G>A (p.Gly983Arg)
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
NM_006269.2(RP1):c.2999del (p.Gly1000fs)
NM_006269.2(RP1):c.3042T>C (p.Asp1014=)
NM_006269.2(RP1):c.3150dup (p.Leu1051fs) rs1806079331
NM_006269.2(RP1):c.3171C>A (p.Asn1057Lys)
NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_006269.2(RP1):c.3669C>A (p.Cys1223Ter)
NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)
NM_006269.2(RP1):c.381G>T (p.Trp127Cys)
NM_006269.2(RP1):c.3827_3837del (p.Pro1276fs)
NM_006269.2(RP1):c.392G>A (p.Arg131Gln)
NM_006269.2(RP1):c.406C>T (p.His136Tyr)
NM_006269.2(RP1):c.4089_4092del (p.Arg1364fs)
NM_006269.2(RP1):c.4158A>G (p.Thr1386=)
NM_006269.2(RP1):c.4196del (p.Cys1399fs) rs762951570
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
NM_006269.2(RP1):c.424G>A (p.Val142Ile)
NM_006269.2(RP1):c.4267T>A (p.Cys1423Ser)
NM_006269.2(RP1):c.4327C>T (p.Arg1443Trp) rs373109791
NM_006269.2(RP1):c.443G>A (p.Gly148Asp) rs866545331
NM_006269.2(RP1):c.445A>C (p.Met149Leu) rs778788543
NM_006269.2(RP1):c.4544T>C (p.Met1515Thr)
NM_006269.2(RP1):c.458del (p.Pro153fs)
NM_006269.2(RP1):c.4698T>G (p.Thr1566=)
NM_006269.2(RP1):c.4873A>T (p.Ile1625Leu)
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.487G>T (p.Asp163Tyr) rs370436803
NM_006269.2(RP1):c.518G>T (p.Ser173Ile)
NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr) rs61739567
NM_006269.2(RP1):c.6181del (p.Ile2061fs) rs775367880
NM_006269.2(RP1):c.6197A>G (p.Asp2066Gly)
NM_006269.2(RP1):c.6330A>G (p.Gln2110=)
NM_006269.2(RP1):c.6421A>C (p.Ile2141Leu)
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006269.2(RP1):c.742C>T (p.Gln248Ter) rs769156393
NM_006269.2(RP1):c.836C>T (p.Ser279Phe) rs375744003

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