ClinVar Miner

List of variants reported as likely benign for Cone-rod dystrophy 13; Leber congenital amaurosis 6 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989 0.00181
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_020366.4(RPGRIP1):c.1307-18T>G rs377024599 0.00036
NM_020366.4(RPGRIP1):c.2949G>A (p.Lys983=) rs371419221 0.00036
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.1287T>G (p.Leu429=) rs368092579 0.00026
NM_020366.4(RPGRIP1):c.2529C>T (p.Asn843=) rs74034911 0.00026
NM_020366.4(RPGRIP1):c.2711-13G>T rs369991630 0.00026
NM_020366.4(RPGRIP1):c.2367+19C>T rs367769049 0.00025
NM_020366.4(RPGRIP1):c.3525T>C (p.Phe1175=) rs371400132 0.00018
NM_020366.4(RPGRIP1):c.801-14G>A rs368869746 0.00018
NM_020366.4(RPGRIP1):c.3749-16T>C rs369756217 0.00016
NM_020366.4(RPGRIP1):c.85+12G>A rs201152775 0.00016
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.1468-14G>A rs142196176 0.00011
NM_020366.4(RPGRIP1):c.2710+11G>A rs368181053 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2208A>G (p.Thr736=) rs549165176 0.00010
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_020366.4(RPGRIP1):c.1078-11A>G rs368149716 0.00009
NM_020366.4(RPGRIP1):c.189T>C (p.Leu63=) rs777977490 0.00009
NM_020366.4(RPGRIP1):c.375A>G (p.Gln125=) rs372557648 0.00009
NM_020366.4(RPGRIP1):c.528G>A (p.Ser176=) rs375351235 0.00009
NM_020366.4(RPGRIP1):c.889T>C (p.Leu297=) rs1010355460 0.00008
NM_020366.4(RPGRIP1):c.1470A>G (p.Pro490=) rs374411851 0.00006
NM_020366.4(RPGRIP1):c.2216-11C>G rs373502907 0.00006
NM_020366.4(RPGRIP1):c.2397C>T (p.Asn799=) rs375546482 0.00006
NM_020366.4(RPGRIP1):c.2439T>C (p.Ser813=) rs774802954 0.00006
NM_020366.4(RPGRIP1):c.3532+8A>C rs533130331 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_020366.4(RPGRIP1):c.930+12G>T rs373627836 0.00006
NM_020366.4(RPGRIP1):c.1518T>C (p.Asn506=) rs757821677 0.00005
NM_020366.4(RPGRIP1):c.3339+12G>A rs377219564 0.00005
NM_020366.4(RPGRIP1):c.490+14C>T rs776461437 0.00005
NM_020366.4(RPGRIP1):c.543G>A (p.Ala181=) rs774735061 0.00005
NM_020366.4(RPGRIP1):c.1488A>G (p.Gln496=) rs752913201 0.00004
NM_020366.4(RPGRIP1):c.153T>C (p.Phe51=) rs199606938 0.00004
NM_020366.4(RPGRIP1):c.1581T>C (p.Ile527=) rs1198707436 0.00004
NM_020366.4(RPGRIP1):c.1608T>C (p.Tyr536=) rs371513311 0.00004
NM_020366.4(RPGRIP1):c.2466A>G (p.Pro822=) rs757884304 0.00004
NM_020366.4(RPGRIP1):c.2478C>T (p.Tyr826=) rs369908041 0.00004
NM_020366.4(RPGRIP1):c.2490C>T (p.Thr830=) rs748441119 0.00004
NM_020366.4(RPGRIP1):c.3220C>T (p.Pro1074Ser) rs533471221 0.00004
NM_020366.4(RPGRIP1):c.3239-15C>G rs761280426 0.00004
NM_020366.4(RPGRIP1):c.3451C>T (p.Leu1151=) rs748933746 0.00004
NM_020366.4(RPGRIP1):c.3617+16C>G rs759638122 0.00004
NM_020366.4(RPGRIP1):c.800+15C>T rs768757891 0.00004
NM_020366.4(RPGRIP1):c.846C>T (p.Leu282=) rs201186199 0.00004
NM_020366.4(RPGRIP1):c.993A>G (p.Ala331=) rs773504349 0.00004
NM_020366.4(RPGRIP1):c.2148A>C (p.Ala716=) rs781305621 0.00003
NM_020366.4(RPGRIP1):c.219-4A>G rs755936973 0.00003
NM_020366.4(RPGRIP1):c.3533-4A>G rs925349418 0.00003
NM_020366.4(RPGRIP1):c.3579G>A (p.Leu1193=) rs779437287 0.00003
NM_020366.4(RPGRIP1):c.39A>G (p.Pro13=) rs769066205 0.00003
NM_020366.4(RPGRIP1):c.1295C>T (p.Ser432Phe) rs190985984 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.1464C>T (p.Ile488=) rs370711678 0.00002
NM_020366.4(RPGRIP1):c.1578T>C (p.Leu526=) rs371653245 0.00002
NM_020366.4(RPGRIP1):c.1599C>T (p.Asn533=) rs191796176 0.00002
NM_020366.4(RPGRIP1):c.2112C>T (p.His704=) rs764999000 0.00002
NM_020366.4(RPGRIP1):c.2382T>C (p.Ser794=) rs753463994 0.00002
NM_020366.4(RPGRIP1):c.3582C>T (p.Phe1194=) rs746471434 0.00002
NM_020366.4(RPGRIP1):c.468G>A (p.Pro156=) rs1486358089 0.00002
NM_020366.4(RPGRIP1):c.594T>C (p.Ser198=) rs764044384 0.00002
NM_020366.4(RPGRIP1):c.654A>G (p.Leu218=) rs755671651 0.00002
NM_020366.4(RPGRIP1):c.678C>A (p.Ile226=) rs368948798 0.00002
NM_020366.4(RPGRIP1):c.987C>T (p.Leu329=) rs762003618 0.00002
NM_020366.4(RPGRIP1):c.1077+19A>T rs975867738 0.00001
NM_020366.4(RPGRIP1):c.1134T>C (p.Tyr378=) rs1395270436 0.00001
NM_020366.4(RPGRIP1):c.1185C>T (p.Pro395=) rs961245689 0.00001
NM_020366.4(RPGRIP1):c.1248G>A (p.Gln416=) rs751275677 0.00001
NM_020366.4(RPGRIP1):c.1468-8C>T rs766228869 0.00001
NM_020366.4(RPGRIP1):c.1612-16C>T rs372233468 0.00001
NM_020366.4(RPGRIP1):c.162C>T (p.Arg54=) rs765765074 0.00001
NM_020366.4(RPGRIP1):c.1650T>C (p.Asp550=) rs369088337 0.00001
NM_020366.4(RPGRIP1):c.1791C>T (p.Thr597=) rs1416373215 0.00001
NM_020366.4(RPGRIP1):c.1884T>C (p.Phe628=) rs200491247 0.00001
NM_020366.4(RPGRIP1):c.1899C>T (p.His633=) rs759142742 0.00001
NM_020366.4(RPGRIP1):c.218+7dup rs1319812899 0.00001
NM_020366.4(RPGRIP1):c.2215+8C>T rs1163623603 0.00001
NM_020366.4(RPGRIP1):c.2235C>T (p.Phe745=) rs767808334 0.00001
NM_020366.4(RPGRIP1):c.2286A>G (p.Leu762=) rs1276632598 0.00001
NM_020366.4(RPGRIP1):c.2367+20G>A rs374576752 0.00001
NM_020366.4(RPGRIP1):c.240G>A (p.Arg80=) rs1881000292 0.00001
NM_020366.4(RPGRIP1):c.267G>A (p.Arg89=) rs1025250925 0.00001
NM_020366.4(RPGRIP1):c.2700A>G (p.Glu900=) rs781608496 0.00001
NM_020366.4(RPGRIP1):c.2784C>T (p.Pro928=) rs1056222442 0.00001
NM_020366.4(RPGRIP1):c.2877G>A (p.Lys959=) rs1405792437 0.00001
NM_020366.4(RPGRIP1):c.2907A>G (p.Ala969=) rs751139588 0.00001
NM_020366.4(RPGRIP1):c.3239-17A>C rs1777618184 0.00001
NM_020366.4(RPGRIP1):c.3288C>T (p.Thr1096=) rs771436916 0.00001
NM_020366.4(RPGRIP1):c.339C>A (p.Leu113=) rs758436075 0.00001
NM_020366.4(RPGRIP1):c.3414C>T (p.Asn1138=) rs398124355 0.00001
NM_020366.4(RPGRIP1):c.3462G>A (p.Ser1154=) rs772065227 0.00001
NM_020366.4(RPGRIP1):c.3738A>G (p.Gln1246=) rs751191642 0.00001
NM_020366.4(RPGRIP1):c.3780A>T (p.Ile1260=) rs281865294 0.00001
NM_020366.4(RPGRIP1):c.498G>A (p.Arg166=) rs1002507485 0.00001
NM_020366.4(RPGRIP1):c.519C>A (p.Ala173=) rs754509080 0.00001
NM_020366.4(RPGRIP1):c.708G>A (p.Glu236=) rs770273789 0.00001
NM_020366.4(RPGRIP1):c.769T>C (p.Leu257=) rs537769664 0.00001
NM_020366.4(RPGRIP1):c.85+20A>T rs761987893 0.00001
NM_020366.4(RPGRIP1):c.867A>T (p.Ser289=) rs892708678 0.00001
NM_020366.4(RPGRIP1):c.868T>C (p.Leu290=) rs1825368121 0.00001
NM_020366.4(RPGRIP1):c.906+14A>G rs1243025284 0.00001
NM_020366.4(RPGRIP1):c.939A>T (p.Gly313=) rs917609289 0.00001
NM_020366.4(RPGRIP1):c.1078-16C>T
NM_020366.4(RPGRIP1):c.1078-5C>G
NM_020366.4(RPGRIP1):c.1092T>C (p.Val364=) rs2139176256
NM_020366.4(RPGRIP1):c.1107A>G (p.Lys369=)
NM_020366.4(RPGRIP1):c.111C>A (p.Pro37=)
NM_020366.4(RPGRIP1):c.1151+12A>G
NM_020366.4(RPGRIP1):c.1203C>T (p.Leu401=) rs2139188065
NM_020366.4(RPGRIP1):c.1209G>A (p.Ala403=)
NM_020366.4(RPGRIP1):c.1227A>G (p.Gln409=)
NM_020366.4(RPGRIP1):c.1239G>A (p.Leu413=)
NM_020366.4(RPGRIP1):c.1290G>A (p.Glu430=) rs1881927011
NM_020366.4(RPGRIP1):c.1296C>T (p.Ser432=)
NM_020366.4(RPGRIP1):c.1299G>A (p.Arg433=)
NM_020366.4(RPGRIP1):c.12G>A (p.Leu4=)
NM_020366.4(RPGRIP1):c.1306+19A>G rs2139188641
NM_020366.4(RPGRIP1):c.1307-9T>G
NM_020366.4(RPGRIP1):c.1326G>A (p.Lys442=) rs375450848
NM_020366.4(RPGRIP1):c.1335C>G (p.Val445=) rs2139199941
NM_020366.4(RPGRIP1):c.136T>C (p.Leu46=)
NM_020366.4(RPGRIP1):c.1392A>T (p.Thr464=) rs954065821
NM_020366.4(RPGRIP1):c.1413G>A (p.Arg471=) rs1017455134
NM_020366.4(RPGRIP1):c.1416A>G (p.Gln472=) rs776264535
NM_020366.4(RPGRIP1):c.141G>A (p.Glu47=)
NM_020366.4(RPGRIP1):c.1434C>T (p.His478=)
NM_020366.4(RPGRIP1):c.1467+11C>G
NM_020366.4(RPGRIP1):c.1468-15C>A
NM_020366.4(RPGRIP1):c.1468-15C>T rs557262153
NM_020366.4(RPGRIP1):c.1468-16G>A
NM_020366.4(RPGRIP1):c.1506C>G (p.Ser502=) rs777877901
NM_020366.4(RPGRIP1):c.1569G>A (p.Arg523=) rs775613696
NM_020366.4(RPGRIP1):c.1578T>A (p.Leu526=) rs371653245
NM_020366.4(RPGRIP1):c.1590C>T (p.Arg530=)
NM_020366.4(RPGRIP1):c.1647T>C (p.Asn549=)
NM_020366.4(RPGRIP1):c.1653T>C (p.Asn551=)
NM_020366.4(RPGRIP1):c.1701C>G (p.Leu567=)
NM_020366.4(RPGRIP1):c.1746T>C (p.His582=)
NM_020366.4(RPGRIP1):c.1763-13C>A
NM_020366.4(RPGRIP1):c.1763-8C>G rs1408302760
NM_020366.4(RPGRIP1):c.1785T>C (p.Tyr595=)
NM_020366.4(RPGRIP1):c.1800G>A (p.Leu600=)
NM_020366.4(RPGRIP1):c.1858C>T (p.Leu620=)
NM_020366.4(RPGRIP1):c.1888C>T (p.Leu630=)
NM_020366.4(RPGRIP1):c.1909C>T (p.Leu637=)
NM_020366.4(RPGRIP1):c.1935T>A (p.Ala645=)
NM_020366.4(RPGRIP1):c.2019G>A (p.Gln673=) rs2139228327
NM_020366.4(RPGRIP1):c.2064G>A (p.Ser688=)
NM_020366.4(RPGRIP1):c.2076C>T (p.His692=)
NM_020366.4(RPGRIP1):c.2098C>A (p.Arg700=) rs775239691
NM_020366.4(RPGRIP1):c.2100G>C (p.Arg700=) rs369515171
NM_020366.4(RPGRIP1):c.2172G>A (p.Val724=)
NM_020366.4(RPGRIP1):c.218+9A>G
NM_020366.4(RPGRIP1):c.219-16C>T rs1880998821
NM_020366.4(RPGRIP1):c.219-17G>T rs1399266958
NM_020366.4(RPGRIP1):c.2202G>A (p.Leu734=)
NM_020366.4(RPGRIP1):c.2215+10G>A
NM_020366.4(RPGRIP1):c.2216-13T>G rs1882942396
NM_020366.4(RPGRIP1):c.2260C>T (p.Leu754=) rs2139231465
NM_020366.4(RPGRIP1):c.2271C>G (p.Pro757=)
NM_020366.4(RPGRIP1):c.2280C>G (p.Pro760=) rs2139231577
NM_020366.4(RPGRIP1):c.2289G>A (p.Gln763=) rs2139231696
NM_020366.4(RPGRIP1):c.2307G>A (p.Lys769=)
NM_020366.4(RPGRIP1):c.2313C>T (p.Ala771=)
NM_020366.4(RPGRIP1):c.2331C>A (p.Thr777=)
NM_020366.4(RPGRIP1):c.2361A>G (p.Glu787=)
NM_020366.4(RPGRIP1):c.2367+16T>C
NM_020366.4(RPGRIP1):c.2368-15C>G rs993638684
NM_020366.4(RPGRIP1):c.2388A>G (p.Glu796=) rs764645510
NM_020366.4(RPGRIP1):c.2440C>A (p.Arg814=) rs759940113
NM_020366.4(RPGRIP1):c.2448G>C (p.Leu816=) rs967192107
NM_020366.4(RPGRIP1):c.2499C>T (p.Asp833=)
NM_020366.4(RPGRIP1):c.2514C>T (p.Ile838=) rs775845491
NM_020366.4(RPGRIP1):c.2523C>T (p.Ala841=) rs1483414787
NM_020366.4(RPGRIP1):c.2652G>A (p.Ser884=)
NM_020366.4(RPGRIP1):c.2652G>C (p.Ser884=) rs754062559
NM_020366.4(RPGRIP1):c.2658T>C (p.Leu886=) rs2139237303
NM_020366.4(RPGRIP1):c.265C>A (p.Arg89=)
NM_020366.4(RPGRIP1):c.2706C>T (p.Ile902=)
NM_020366.4(RPGRIP1):c.270C>G (p.Val90=)
NM_020366.4(RPGRIP1):c.2710+10C>T
NM_020366.4(RPGRIP1):c.2710+7G>C
NM_020366.4(RPGRIP1):c.2748C>T (p.Asn916=)
NM_020366.4(RPGRIP1):c.2829G>A (p.Lys943=)
NM_020366.4(RPGRIP1):c.2832G>A (p.Gly944=) rs1883263391
NM_020366.4(RPGRIP1):c.2865T>G (p.Ser955=)
NM_020366.4(RPGRIP1):c.2874A>G (p.Glu958=) rs1439287091
NM_020366.4(RPGRIP1):c.3021T>C (p.His1007=) rs1023525604
NM_020366.4(RPGRIP1):c.3039T>C (p.Val1013=) rs765515179
NM_020366.4(RPGRIP1):c.3060G>A (p.Glu1020=) rs997037284
NM_020366.4(RPGRIP1):c.3075C>T (p.Asn1025=)
NM_020366.4(RPGRIP1):c.3168G>A (p.Gln1056=)
NM_020366.4(RPGRIP1):c.3180G>A (p.Glu1060=)
NM_020366.4(RPGRIP1):c.3238+17T>A
NM_020366.4(RPGRIP1):c.3239-16A>G
NM_020366.4(RPGRIP1):c.3240C>T (p.Asp1080=)
NM_020366.4(RPGRIP1):c.3312A>G (p.Pro1104=)
NM_020366.4(RPGRIP1):c.3339+9A>G
NM_020366.4(RPGRIP1):c.3340-19T>C
NM_020366.4(RPGRIP1):c.3373C>T (p.Leu1125=)
NM_020366.4(RPGRIP1):c.3420A>G (p.Lys1140=)
NM_020366.4(RPGRIP1):c.3426G>A (p.Val1142=) rs1463280224
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.3450C>T (p.Asp1150=)
NM_020366.4(RPGRIP1):c.3484C>T (p.Leu1162=)
NM_020366.4(RPGRIP1):c.3501A>C (p.Ala1167=) rs760570560
NM_020366.4(RPGRIP1):c.3513C>T (p.Ile1171=) rs1448324598
NM_020366.4(RPGRIP1):c.3516C>T (p.His1172=)
NM_020366.4(RPGRIP1):c.3532+8_3532+10del rs2139338142
NM_020366.4(RPGRIP1):c.3533-18C>T rs2139349638
NM_020366.4(RPGRIP1):c.3571C>A (p.Arg1191=)
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020366.4(RPGRIP1):c.3618-18A>C
NM_020366.4(RPGRIP1):c.3618-4T>G
NM_020366.4(RPGRIP1):c.3645T>C (p.Pro1215=) rs1333427417
NM_020366.4(RPGRIP1):c.3646C>T (p.Leu1216=) rs2139365900
NM_020366.4(RPGRIP1):c.3687A>G (p.Ala1229=) rs745981313
NM_020366.4(RPGRIP1):c.3714G>A (p.Glu1238=)
NM_020366.4(RPGRIP1):c.3748+11T>A
NM_020366.4(RPGRIP1):c.3748+16T>C rs2139366554
NM_020366.4(RPGRIP1):c.3748+17T>C
NM_020366.4(RPGRIP1):c.3749-12dup
NM_020366.4(RPGRIP1):c.3749-14C>T rs2139386820
NM_020366.4(RPGRIP1):c.3749-6C>T rs373373799
NM_020366.4(RPGRIP1):c.3749-8C>T
NM_020366.4(RPGRIP1):c.3768G>A (p.Leu1256=)
NM_020366.4(RPGRIP1):c.3843T>C (p.Thr1281=)
NM_020366.4(RPGRIP1):c.3850T>C (p.Leu1284=) rs2139387827
NM_020366.4(RPGRIP1):c.405C>T (p.Ser135=)
NM_020366.4(RPGRIP1):c.417C>G (p.Ala139=) rs1405988307
NM_020366.4(RPGRIP1):c.420G>A (p.Gln140=) rs2139156763
NM_020366.4(RPGRIP1):c.447G>A (p.Gln149=)
NM_020366.4(RPGRIP1):c.459C>A (p.Ala153=)
NM_020366.4(RPGRIP1):c.459C>T (p.Ala153=) rs756459696
NM_020366.4(RPGRIP1):c.474G>A (p.Pro158=)
NM_020366.4(RPGRIP1):c.490+18A>G rs1881016656
NM_020366.4(RPGRIP1):c.490+20C>T
NM_020366.4(RPGRIP1):c.491-10A>G
NM_020366.4(RPGRIP1):c.54T>C (p.Asp18=)
NM_020366.4(RPGRIP1):c.624T>C (p.Ser208=)
NM_020366.4(RPGRIP1):c.645C>T (p.Pro215=)
NM_020366.4(RPGRIP1):c.678C>T (p.Ile226=) rs368948798
NM_020366.4(RPGRIP1):c.744T>C (p.Asp248=)
NM_020366.4(RPGRIP1):c.75A>G (p.Pro25=)
NM_020366.4(RPGRIP1):c.783G>A (p.Gln261=) rs398124356
NM_020366.4(RPGRIP1):c.792A>G (p.Ala264=) rs1008051417
NM_020366.4(RPGRIP1):c.819G>A (p.Lys273=) rs2139168912
NM_020366.4(RPGRIP1):c.837T>C (p.Leu279=) rs751301091
NM_020366.4(RPGRIP1):c.85+11C>T
NM_020366.4(RPGRIP1):c.85+12G>T
NM_020366.4(RPGRIP1):c.906+15_906+17del rs543597442
NM_020366.4(RPGRIP1):c.907-7del rs1881499414
NM_020366.4(RPGRIP1):c.924C>T (p.Leu308=)
NM_020366.4(RPGRIP1):c.930+15T>C rs2139173387
NM_020366.4(RPGRIP1):c.931-18A>C
NM_020366.4(RPGRIP1):c.931-4C>T rs1023673456
NM_020366.4(RPGRIP1):c.99A>G (p.Lys33=)

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