ClinVar Miner

List of variants in gene RPGRIP1 reported as likely benign for Leber congenital amaurosis 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_020366.4(RPGRIP1):c.*10T>C rs80191010 0.01626
NM_020366.4(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882 0.01609
NM_020366.4(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908 0.00689
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
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.450C>G (p.Leu150=) rs144585562 0.00130
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.2555G>A (p.Arg852Gln) rs181758389 0.00076
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.2435G>A (p.Arg812Gln) rs190490019 0.00024
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.2334T>C (p.Asp778=) rs188318743 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.3239-14C>T rs542859849 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=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.