ClinVar Miner

List of variants in gene RPGRIP1 studied for Leber congenital amaurosis 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NM_020366.3(RPGRIP1):c.*10T>C rs80191010
NM_020366.3(RPGRIP1):c.*44T>C rs370767680
NM_020366.3(RPGRIP1):c.*76A>G
NM_020366.3(RPGRIP1):c.*81A>G rs182458550
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.3(RPGRIP1):c.1078-9C>A rs371312060
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.116G>A (p.Ser39Asn)
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397
NM_020366.3(RPGRIP1):c.1208C>T (p.Ala403Val)
NM_020366.3(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308
NM_020366.3(RPGRIP1):c.127C>T (p.Arg43Trp)
NM_020366.3(RPGRIP1):c.128G>A (p.Arg43Gln)
NM_020366.3(RPGRIP1):c.1295C>T (p.Ser432Phe) rs190985984
NM_020366.3(RPGRIP1):c.1306+3A>G
NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466
NM_020366.3(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.3(RPGRIP1):c.1506C>A (p.Ser502=)
NM_020366.3(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.3(RPGRIP1):c.1608T>C (p.Tyr536=) rs371513311
NM_020366.3(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259
NM_020366.3(RPGRIP1):c.163G>A (p.Glu55Lys)
NM_020366.3(RPGRIP1):c.1726G>A (p.Glu576Lys)
NM_020366.3(RPGRIP1):c.173T>C (p.Met58Thr)
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.1761T>C (p.Ser587=)
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.1797G>A (p.Pro599=) rs9322965
NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg)
NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.3(RPGRIP1):c.1899C>T (p.His633=) rs759142742
NM_020366.3(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.3(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2037C>T (p.Thr679=) rs372813238
NM_020366.3(RPGRIP1):c.2063C>T (p.Ser688Leu)
NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2215+7G>A rs7157052
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598
NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743
NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.3(RPGRIP1):c.2367+1G>A
NM_020366.3(RPGRIP1):c.2367+23del rs781728563
NM_020366.3(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019
NM_020366.3(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113
NM_020366.3(RPGRIP1):c.2441G>T (p.Arg814Leu)
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2466A>G (p.Pro822=)
NM_020366.3(RPGRIP1):c.2480G>A (p.Arg827His)
NM_020366.3(RPGRIP1):c.2490C>T (p.Thr830=) rs748441119
NM_020366.3(RPGRIP1):c.2507C>A (p.Thr836Asn)
NM_020366.3(RPGRIP1):c.2510C>G (p.Ala837Gly)
NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)
NM_020366.3(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506
NM_020366.3(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389
NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879
NM_020366.3(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989
NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252
NM_020366.3(RPGRIP1):c.262C>T (p.Leu88=)
NM_020366.3(RPGRIP1):c.2663G>A (p.Arg888Gln)
NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.3(RPGRIP1):c.2710+11G>A
NM_020366.3(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.3(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926
NM_020366.3(RPGRIP1):c.2878G>T (p.Ala960Ser)
NM_020366.3(RPGRIP1):c.287C>A (p.Pro96Gln) rs1040904
NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399
NM_020366.3(RPGRIP1):c.2930C>T (p.Ala977Val)
NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074
NM_020366.3(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361
NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856
NM_020366.3(RPGRIP1):c.3171C>T (p.His1057=) rs201838837
NM_020366.3(RPGRIP1):c.3221C>G (p.Pro1074Arg)
NM_020366.3(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.3(RPGRIP1):c.3239-14C>T
NM_020366.3(RPGRIP1):c.3291C>T (p.Asp1097=)
NM_020366.3(RPGRIP1):c.3340-15C>T rs28664100
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
NM_020366.3(RPGRIP1):c.3358A>C (p.Ile1120Leu)
NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911
NM_020366.3(RPGRIP1):c.3364A>G (p.Ile1122Val)
NM_020366.3(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.3(RPGRIP1):c.3447C>T (p.Tyr1149=) rs35592908
NM_020366.3(RPGRIP1):c.3461C>G (p.Ser1154Trp)
NM_020366.3(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.3(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634
NM_020366.3(RPGRIP1):c.3533-4A>G rs925349418
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.3(RPGRIP1):c.3570G>T (p.Arg1190Ser)
NM_020366.3(RPGRIP1):c.3571C>T (p.Arg1191Trp)
NM_020366.3(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.3(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.3749-6C>A rs373373799
NM_020366.3(RPGRIP1):c.3760G>A (p.Glu1254Lys)
NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889
NM_020366.3(RPGRIP1):c.3779T>C (p.Ile1260Thr)
NM_020366.3(RPGRIP1):c.3787C>A (p.Leu1263Met)
NM_020366.3(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582
NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397
NM_020366.3(RPGRIP1):c.386A>T (p.His129Leu)
NM_020366.3(RPGRIP1):c.437G>A (p.Gly146Glu)
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.491-3T>C
NM_020366.3(RPGRIP1):c.505C>T (p.Leu169=)
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.525A>G (p.Pro175=) rs17792599
NM_020366.3(RPGRIP1):c.528G>A (p.Ser176=) rs375351235
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.543G>A (p.Ala181=) rs774735061
NM_020366.3(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751
NM_020366.3(RPGRIP1):c.636G>A (p.Met212Ile)
NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.3(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641
NM_020366.3(RPGRIP1):c.77C>T (p.Ala26Val)
NM_020366.3(RPGRIP1):c.787G>T (p.Ala263Ser)
NM_020366.3(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.3(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343
NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.3(RPGRIP1):c.846C>T (p.Leu282=)
NM_020366.3(RPGRIP1):c.874A>G (p.Met292Val)
NM_020366.3(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
NM_020366.3(RPGRIP1):c.903_906+17del rs886039911
NM_020366.3(RPGRIP1):c.907G>A (p.Ala303Thr)
NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020366.3(RPGRIP1):c.931-2A>G rs374188857
NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462
RPGRIP1, 1-BP DEL, ASP1176
RPGRIP1, 1-BP DEL, LYS342
RPGRIP1, 1-BP INS, GLN893
RPGRIP1, 3-BP DEL, 3835GAG

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