ClinVar Miner

List of variants in gene RP1 reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_006269.2(RP1):c.1118C>T (p.Thr373Ile) rs77775126 0.00985
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp) rs77860871 0.00580
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_006269.2(RP1):c.382C>A (p.Leu128Ile) rs147116231 0.00283
NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn) rs35234349 0.00236
NM_006269.2(RP1):c.4250T>C (p.Leu1417Pro) rs139294220 0.00204
NM_006269.2(RP1):c.279G>T (p.Thr93=) rs144293929 0.00184
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00153
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.228C>T (p.Leu76=) rs142600056 0.00073
NM_006269.2(RP1):c.419A>G (p.His140Arg) rs147736171 0.00073
NM_006269.2(RP1):c.615+16G>T rs199894846 0.00064
NM_006269.2(RP1):c.3976G>C (p.Ala1326Pro) rs114797722 0.00058
NM_006269.2(RP1):c.4563C>T (p.Asn1521=) rs150524359 0.00056
NM_006269.2(RP1):c.3657T>C (p.Ser1219=) rs145115379 0.00029
NM_006269.2(RP1):c.1632A>G (p.Ala544=) rs147786754 0.00026
NM_006269.2(RP1):c.1530A>G (p.Ser510=) rs148663385 0.00023
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.2116G>C (p.Gly706Arg) rs199879316 0.00014
NM_006269.2(RP1):c.563C>A (p.Thr188Lys) rs201235412 0.00014
NM_006269.2(RP1):c.4488A>G (p.Glu1496=) rs370268072 0.00011
NM_006269.2(RP1):c.2894G>T (p.Ser965Ile) rs201110322 0.00009
NM_006269.2(RP1):c.3036G>C (p.Leu1012=) rs373971446 0.00009
NM_006269.2(RP1):c.6169C>G (p.Gln2057Glu) rs201860457 0.00009
NM_006269.2(RP1):c.21T>G (p.Thr7=) rs377126381 0.00008
NM_006269.2(RP1):c.3999C>T (p.Tyr1333=) rs146602041 0.00008
NM_006269.2(RP1):c.4269T>C (p.Cys1423=) rs540468439 0.00007
NM_006269.2(RP1):c.4308C>T (p.Ser1436=) rs190591946 0.00007
NM_006269.2(RP1):c.984C>T (p.Asp328=) rs776574526 0.00007
NM_006269.2(RP1):c.1629T>C (p.Ser543=) rs746083306 0.00006
NM_006269.2(RP1):c.315A>G (p.Leu105=) rs764145254 0.00006
NM_006269.2(RP1):c.3399C>G (p.Leu1133=) rs746723674 0.00006
NM_006269.2(RP1):c.4665A>G (p.Gly1555=) rs929619376 0.00006
NM_006269.2(RP1):c.466C>T (p.Leu156=) rs568059775 0.00006
NM_006269.2(RP1):c.897C>T (p.Tyr299=) rs534494268 0.00006
NM_006269.2(RP1):c.2508G>A (p.Pro836=) rs763905641 0.00005
NM_006269.2(RP1):c.324C>T (p.His108=) rs141074157 0.00005
NM_006269.2(RP1):c.4831C>A (p.Pro1611Thr) rs201519839 0.00005
NM_006269.2(RP1):c.6210C>T (p.Asn2070=) rs767325122 0.00005
NM_006269.2(RP1):c.141A>G (p.Gln47=) rs372249141 0.00004
NM_006269.2(RP1):c.2339G>T (p.Arg780Ile) rs762382791 0.00004
NM_006269.2(RP1):c.2622G>A (p.Gly874=) rs369939931 0.00004
NM_006269.2(RP1):c.3198G>A (p.Glu1066=) rs759707480 0.00004
NM_006269.2(RP1):c.3579C>T (p.His1193=) rs777012140 0.00004
NM_006269.2(RP1):c.3048T>C (p.Tyr1016=) rs763034533 0.00003
NM_006269.2(RP1):c.3966C>T (p.Thr1322=) rs753573882 0.00003
NM_006269.2(RP1):c.4161G>A (p.Leu1387=) rs780607488 0.00003
NM_006269.2(RP1):c.4200C>T (p.Gly1400=) rs770815082 0.00003
NM_006269.2(RP1):c.424G>T (p.Val142Leu) rs367600337 0.00003
NM_006269.2(RP1):c.474C>T (p.Val158=) rs1002516680 0.00003
NM_006269.2(RP1):c.1756T>C (p.Leu586=) rs758592527 0.00002
NM_006269.2(RP1):c.2496T>C (p.Asp832=) rs751925476 0.00002
NM_006269.2(RP1):c.2556G>A (p.Lys852=) rs1385725559 0.00002
NM_006269.2(RP1):c.2937C>T (p.Ala979=) rs201613551 0.00002
NM_006269.2(RP1):c.3504G>A (p.Lys1168=) rs191997072 0.00002
NM_006269.2(RP1):c.3774A>C (p.Pro1258=) rs779999712 0.00002
NM_006269.2(RP1):c.429C>G (p.Ala143=) rs768070088 0.00002
NM_006269.2(RP1):c.6165C>T (p.Ser2055=) rs145661075 0.00002
NM_006269.2(RP1):c.1083T>C (p.Asn361=) rs1235276964 0.00001
NM_006269.2(RP1):c.1641T>G (p.Ala547=) rs374344876 0.00001
NM_006269.2(RP1):c.1659A>G (p.Thr553=) rs1230748428 0.00001
NM_006269.2(RP1):c.1875T>C (p.Asn625=) rs1000583424 0.00001
NM_006269.2(RP1):c.1998A>G (p.Ser666=) rs1806029711 0.00001
NM_006269.2(RP1):c.2256G>A (p.Thr752=) rs748149366 0.00001
NM_006269.2(RP1):c.2463T>C (p.His821=) rs780108007 0.00001
NM_006269.2(RP1):c.2511A>G (p.Gln837=) rs753558619 0.00001
NM_006269.2(RP1):c.2520A>G (p.Ala840=) rs368447697 0.00001
NM_006269.2(RP1):c.2529A>T (p.Ala843=) rs750369478 0.00001
NM_006269.2(RP1):c.2604C>T (p.Ser868=) rs372895901 0.00001
NM_006269.2(RP1):c.2826G>A (p.Thr942=) rs1475880003 0.00001
NM_006269.2(RP1):c.3216T>C (p.Asp1072=) rs926323176 0.00001
NM_006269.2(RP1):c.3360A>C (p.Ala1120=) rs756863600 0.00001
NM_006269.2(RP1):c.3756G>A (p.Leu1252=) rs763850510 0.00001
NM_006269.2(RP1):c.3786C>T (p.Cys1262=) rs1490877675 0.00001
NM_006269.2(RP1):c.3951A>G (p.Gln1317=) rs1380828230 0.00001
NM_006269.2(RP1):c.4194C>G (p.Ser1398=) rs111678480 0.00001
NM_006269.2(RP1):c.4224A>G (p.Ala1408=) rs750721836 0.00001
NM_006269.2(RP1):c.4275A>G (p.Leu1425=) rs369155601 0.00001
NM_006269.2(RP1):c.4347C>G (p.Gly1449=) rs1321915339 0.00001
NM_006269.2(RP1):c.4393T>C (p.Leu1465=) rs769786870 0.00001
NM_006269.2(RP1):c.4482C>A (p.Ile1494=) rs779152108 0.00001
NM_006269.2(RP1):c.4485A>G (p.Gln1495=) rs1372307817 0.00001
NM_006269.2(RP1):c.4812T>C (p.Tyr1604=) rs1248796772 0.00001
NM_006269.2(RP1):c.4845C>T (p.Gly1615=) rs751632799 0.00001
NM_006269.2(RP1):c.4863A>G (p.Lys1621=) rs1806156778 0.00001
NM_006269.2(RP1):c.531C>T (p.Thr177=) rs774495291 0.00001
NM_006269.2(RP1):c.6108C>T (p.Phe2036=) rs377546732 0.00001
NM_006269.2(RP1):c.612G>A (p.Arg204=) rs374538807 0.00001
NM_006269.2(RP1):c.616-7C>T rs779213123 0.00001
NM_006269.2(RP1):c.6312C>T (p.Cys2104=) rs759136487 0.00001
NM_006269.2(RP1):c.666A>C (p.Ala222=) rs750540431 0.00001
NM_006269.2(RP1):c.795A>G (p.Thr265=) rs771635634 0.00001
NM_006269.2(RP1):c.831T>C (p.Ser277=) rs368111010 0.00001
NM_006269.2(RP1):c.945T>C (p.Ser315=) rs1213317379 0.00001
NM_006269.2(RP1):c.1074T>C (p.Pro358=)
NM_006269.2(RP1):c.1110A>G (p.Pro370=) rs2129315945
NM_006269.2(RP1):c.1137T>C (p.Gly379=) rs1373925871
NM_006269.2(RP1):c.1158A>T (p.Ser386=) rs765680798
NM_006269.2(RP1):c.1173G>A (p.Val391=)
NM_006269.2(RP1):c.1269T>A (p.Ala423=) rs2129316024
NM_006269.2(RP1):c.1296A>G (p.Thr432=) rs2129316038
NM_006269.2(RP1):c.1395C>T (p.Gly465=)
NM_006269.2(RP1):c.1404C>T (p.Thr468=)
NM_006269.2(RP1):c.1419T>G (p.Thr473=) rs2129316092
NM_006269.2(RP1):c.150G>A (p.Gly50=) rs2129314129
NM_006269.2(RP1):c.1527A>C (p.Ser509=) rs1554519455
NM_006269.2(RP1):c.1587A>C (p.Ser529=)
NM_006269.2(RP1):c.15T>C (p.Pro5=)
NM_006269.2(RP1):c.1617G>A (p.Leu539=)
NM_006269.2(RP1):c.1647T>G (p.Val549=)
NM_006269.2(RP1):c.168C>T (p.Asn56=) rs2129314152
NM_006269.2(RP1):c.1704A>C (p.Ser568=)
NM_006269.2(RP1):c.1719C>T (p.Asn573=)
NM_006269.2(RP1):c.1890A>G (p.Pro630=) rs1585562850
NM_006269.2(RP1):c.1974A>G (p.Pro658=)
NM_006269.2(RP1):c.1980T>C (p.Asn660=)
NM_006269.2(RP1):c.1986G>A (p.Lys662=)
NM_006269.2(RP1):c.2025A>G (p.Lys675=) rs908032972
NM_006269.2(RP1):c.2127A>C (p.Thr709=) rs768555974
NM_006269.2(RP1):c.2172G>C (p.Gly724=)
NM_006269.2(RP1):c.21T>C (p.Thr7=)
NM_006269.2(RP1):c.2226T>G (p.Thr742=) rs1585563394
NM_006269.2(RP1):c.2310T>G (p.Val770=)
NM_006269.2(RP1):c.2343A>G (p.Ser781=) rs2129316567
NM_006269.2(RP1):c.2364A>C (p.Gly788=) rs747841240
NM_006269.2(RP1):c.2364A>G (p.Gly788=)
NM_006269.2(RP1):c.243G>A (p.Arg81=) rs985225428
NM_006269.2(RP1):c.2478T>C (p.Leu826=) rs779118436
NM_006269.2(RP1):c.2676A>G (p.Ala892=) rs2129316768
NM_006269.2(RP1):c.2805T>A (p.Ala935=) rs1441133432
NM_006269.2(RP1):c.2811A>G (p.Val937=)
NM_006269.2(RP1):c.282C>G (p.Arg94=)
NM_006269.2(RP1):c.283C>T (p.Leu95=)
NM_006269.2(RP1):c.2928T>A (p.Thr976=)
NM_006269.2(RP1):c.2956C>T (p.Leu986=)
NM_006269.2(RP1):c.297G>A (p.Glu99=)
NM_006269.2(RP1):c.3006A>G (p.Glu1002=) rs1585564799
NM_006269.2(RP1):c.300C>T (p.Asp100=)
NM_006269.2(RP1):c.3018G>A (p.Glu1006=) rs759554556
NM_006269.2(RP1):c.3034C>T (p.Leu1012=) rs1371672240
NM_006269.2(RP1):c.3117T>C (p.His1039=)
NM_006269.2(RP1):c.3159C>T (p.Tyr1053=)
NM_006269.2(RP1):c.315A>C (p.Leu105=) rs764145254
NM_006269.2(RP1):c.3180A>G (p.Arg1060=)
NM_006269.2(RP1):c.318T>C (p.Cys106=)
NM_006269.2(RP1):c.3195A>G (p.Val1065=)
NM_006269.2(RP1):c.3213A>G (p.Val1071=) rs2129317040
NM_006269.2(RP1):c.3255C>A (p.Val1085=) rs145907351
NM_006269.2(RP1):c.3384C>T (p.Leu1128=) rs138461381
NM_006269.2(RP1):c.3388C>T (p.Leu1130=) rs2129317106
NM_006269.2(RP1):c.339G>A (p.Gln113=) rs1805859577
NM_006269.2(RP1):c.3492G>A (p.Leu1164=) rs2129317154
NM_006269.2(RP1):c.3535T>C (p.Leu1179=) rs778979885
NM_006269.2(RP1):c.3591T>C (p.Ser1197=)
NM_006269.2(RP1):c.3600A>G (p.Glu1200=) rs909711479
NM_006269.2(RP1):c.3615A>G (p.Pro1205=)
NM_006269.2(RP1):c.3642G>A (p.Thr1214=) rs371229971
NM_006269.2(RP1):c.3654G>A (p.Gln1218=) rs2129317229
NM_006269.2(RP1):c.3672T>C (p.Ser1224=)
NM_006269.2(RP1):c.3687A>G (p.Thr1229=)
NM_006269.2(RP1):c.3690A>G (p.Gln1230=)
NM_006269.2(RP1):c.369C>T (p.Arg123=) rs749045018
NM_006269.2(RP1):c.3720T>C (p.Ser1240=) rs2129317260
NM_006269.2(RP1):c.3729G>A (p.Glu1243=) rs1806106438
NM_006269.2(RP1):c.3846T>A (p.Pro1282=)
NM_006269.2(RP1):c.3852T>C (p.Asp1284=)
NM_006269.2(RP1):c.3960C>T (p.Asn1320=)
NM_006269.2(RP1):c.3972G>A (p.Glu1324=)
NM_006269.2(RP1):c.405G>A (p.Ala135=)
NM_006269.2(RP1):c.4062T>C (p.Asp1354=) rs768149034
NM_006269.2(RP1):c.4077T>G (p.Thr1359=) rs780936508
NM_006269.2(RP1):c.4140T>C (p.Tyr1380=)
NM_006269.2(RP1):c.4155T>C (p.Asn1385=)
NM_006269.2(RP1):c.4207C>T (p.Leu1403=)
NM_006269.2(RP1):c.423C>A (p.Pro141=)
NM_006269.2(RP1):c.423C>G (p.Pro141=) rs766819017
NM_006269.2(RP1):c.4323A>G (p.Glu1441=)
NM_006269.2(RP1):c.432C>G (p.Val144=)
NM_006269.2(RP1):c.4335T>C (p.Ser1445=)
NM_006269.2(RP1):c.4404T>C (p.Phe1468=)
NM_006269.2(RP1):c.4419C>T (p.Asn1473=) rs767898825
NM_006269.2(RP1):c.441C>G (p.Pro147=)
NM_006269.2(RP1):c.4470T>C (p.Thr1490=)
NM_006269.2(RP1):c.4503T>C (p.Ser1501=)
NM_006269.2(RP1):c.4506A>G (p.Lys1502=)
NM_006269.2(RP1):c.4594C>T (p.Leu1532=)
NM_006269.2(RP1):c.45G>A (p.Thr15=)
NM_006269.2(RP1):c.4611T>G (p.Ser1537=)
NM_006269.2(RP1):c.4671T>A (p.Thr1557=)
NM_006269.2(RP1):c.4766C>T (p.Ser1589Phe) rs199756880
NM_006269.2(RP1):c.4788T>C (p.Pro1596=) rs2129317825
NM_006269.2(RP1):c.492G>A (p.Pro164=)
NM_006269.2(RP1):c.498G>A (p.Thr166=) rs267601947
NM_006269.2(RP1):c.531C>A (p.Thr177=) rs774495291
NM_006269.2(RP1):c.546A>G (p.Ala182=) rs1805875705
NM_006269.2(RP1):c.559C>T (p.Leu187=) rs1194758104
NM_006269.2(RP1):c.597C>T (p.Tyr199=)
NM_006269.2(RP1):c.600T>C (p.Ala200=)
NM_006269.2(RP1):c.606C>T (p.Asp202=) rs1805879513
NM_006269.2(RP1):c.6138T>C (p.Asn2046=)
NM_006269.2(RP1):c.615+18T>C
NM_006269.2(RP1):c.615+20C>T
NM_006269.2(RP1):c.615+7G>A
NM_006269.2(RP1):c.616-15T>C
NM_006269.2(RP1):c.616-17A>G
NM_006269.2(RP1):c.616-20A>G
NM_006269.2(RP1):c.616-9C>A rs2129314727
NM_006269.2(RP1):c.6195C>T (p.Val2065=) rs576244844
NM_006269.2(RP1):c.6207C>T (p.Asn2069=)
NM_006269.2(RP1):c.6273C>A (p.Ile2091=) rs1585569792
NM_006269.2(RP1):c.6279T>C (p.Cys2093=) rs113609041
NM_006269.2(RP1):c.6342C>A (p.Ser2114=) rs2129318667
NM_006269.2(RP1):c.6405T>A (p.Ile2135=)
NM_006269.2(RP1):c.6414G>A (p.Glu2138=) rs2129318722
NM_006269.2(RP1):c.6424T>C (p.Leu2142=) rs2129318727
NM_006269.2(RP1):c.663G>A (p.Ala221=)
NM_006269.2(RP1):c.69C>T (p.Pro23=)
NM_006269.2(RP1):c.711C>T (p.Tyr237=) rs751781610
NM_006269.2(RP1):c.787+13_787+15del rs1805904144
NM_006269.2(RP1):c.787+20A>G rs2129314827
NM_006269.2(RP1):c.787+7C>A
NM_006269.2(RP1):c.879T>A (p.Ser293=)
NM_006269.2(RP1):c.972T>C (p.Ile324=) rs1328526581

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