ClinVar Miner

List of variants in gene RPGRIP1 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (50):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_020366.4(RPGRIP1):c.1111C>T (p.Arg371Ter) rs375859404 0.00004
NM_020366.4(RPGRIP1):c.1468-2A>G rs751342895 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539 0.00002
NM_020366.4(RPGRIP1):c.2711-2A>G rs766443371 0.00002
NM_020366.4(RPGRIP1):c.1219C>T (p.Gln407Ter) rs775425686 0.00001
NM_020366.4(RPGRIP1):c.2314C>T (p.Gln772Ter) rs577932201 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.282_283dup (p.Ala95fs) rs1881002905 0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T rs748072501 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3617+1G>T rs771116776 0.00001
NM_020366.4(RPGRIP1):c.564A>G (p.Glu188=) rs574462207 0.00001
NM_020366.4(RPGRIP1):c.663dup (p.Asn222Ter) rs1233376985 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_020366.4(RPGRIP1):c.898del (p.Val300fs) rs1566674893 0.00001
NC_000014.8:g.(?_21756136)_(21756240_?)del
NC_000014.8:g.(?_21762816)_(21762988_?)dup
NC_000014.8:g.(?_21762816)_(21795986_?)del
NC_000014.8:g.(?_21785835)_(21788356_?)del
NC_000014.8:g.(?_21785835)_(21796806_?)del
NC_000014.8:g.(?_21795782)_(21795966_?)del
NC_000014.8:g.(?_21798388)_(21798566_?)del
NC_000014.9:g.(?_21317696)_(21320177_?)del
NM_020366.3(RPGRIP1):c.[2302C>T];[3565_3571del]
NM_020366.3:c.(930+1_931-1)_(1151+1_1152-1)del
NM_020366.4(RPGRIP1):c.1087_1090del (p.Arg363fs)
NM_020366.4(RPGRIP1):c.1089_1090dup (p.Val364fs) rs768719934
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1133dup (p.Tyr378Ter) rs1391335025
NM_020366.4(RPGRIP1):c.1145T>A (p.Leu382Ter) rs2139176356
NM_020366.4(RPGRIP1):c.1151+1G>A rs751096098
NM_020366.4(RPGRIP1):c.1216del (p.Leu406fs)
NM_020366.4(RPGRIP1):c.1220dup (p.Gln408fs)
NM_020366.4(RPGRIP1):c.1243del (p.Asp415fs)
NM_020366.4(RPGRIP1):c.1303A>T (p.Lys435Ter) rs878853392
NM_020366.4(RPGRIP1):c.1309C>T (p.Gln437Ter)
NM_020366.4(RPGRIP1):c.1363del (p.Glu455fs) rs763671264
NM_020366.4(RPGRIP1):c.1447C>T (p.Gln483Ter) rs368781265
NM_020366.4(RPGRIP1):c.1468-263G>C rs1594202505
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.1646del (p.Asn549fs)
NM_020366.4(RPGRIP1):c.1687C>T (p.Arg563Ter) rs776963292
NM_020366.4(RPGRIP1):c.1713dup (p.Ile572fs)
NM_020366.4(RPGRIP1):c.172_173del (p.Met58fs)
NM_020366.4(RPGRIP1):c.1867C>T (p.Gln623Ter) rs772090790
NM_020366.4(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.4(RPGRIP1):c.1930C>T (p.Gln644Ter) rs2139227650
NM_020366.4(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_020366.4(RPGRIP1):c.1995T>A (p.Cys665Ter) rs1225223445
NM_020366.4(RPGRIP1):c.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.4(RPGRIP1):c.2024del (p.Leu675fs) rs2139228423
NM_020366.4(RPGRIP1):c.2086G>T (p.Glu696Ter) rs1882904268
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg)
NM_020366.4(RPGRIP1):c.2239del (p.Val747fs) rs1882946937
NM_020366.4(RPGRIP1):c.2308_2311del (p.Lys770fs) rs1412625438
NM_020366.4(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2441del (p.Arg814fs) rs1739469293
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.24dup (p.Ser9fs)
NM_020366.4(RPGRIP1):c.2567_2568dup (p.Val857fs) rs1555302200
NM_020366.4(RPGRIP1):c.2668C>T (p.Arg890Ter) rs780587095
NM_020366.4(RPGRIP1):c.2710+1G>A rs1883084009
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs) rs61751270
NM_020366.4(RPGRIP1):c.2781del (p.Tyr929fs) rs1883254940
NM_020366.4(RPGRIP1):c.2876del (p.Lys959fs) rs786205623
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_020366.4(RPGRIP1):c.2895+1G>A rs748072501
NM_020366.4(RPGRIP1):c.2910_2911del (p.Ser970_Pro971insTer)
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter) rs1371805993
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.2974_2984del (p.Arg992fs)
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs) rs1594224781
NM_020366.4(RPGRIP1):c.3094_3095insT (p.Pro1032fs)
NM_020366.4(RPGRIP1):c.313C>T (p.Gln105Ter) rs2139156519
NM_020366.4(RPGRIP1):c.3238+1G>A rs1325103400
NM_020366.4(RPGRIP1):c.3239-1_3241del rs1884133804
NM_020366.4(RPGRIP1):c.3275_3276dup (p.Ala1093fs) rs2139288271
NM_020366.4(RPGRIP1):c.3339+2477_3533-151del
NM_020366.4(RPGRIP1):c.3339+5G>A rs1057518122
NM_020366.4(RPGRIP1):c.3427del (p.Tyr1143fs) rs1885186332
NM_020366.4(RPGRIP1):c.3463G>T (p.Glu1155Ter)
NM_020366.4(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.4(RPGRIP1):c.3487dup (p.Arg1163fs) rs1885194108
NM_020366.4(RPGRIP1):c.3511del (p.Ile1171fs)
NM_020366.4(RPGRIP1):c.3565_3571del (p.Arg1189fs) rs587783012
NM_020366.4(RPGRIP1):c.3609del (p.Gln1204fs) rs61751271
NM_020366.4(RPGRIP1):c.3610C>T (p.Gln1204Ter) rs2139350315
NM_020366.4(RPGRIP1):c.3617+1G>A rs771116776
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.3629_3630insG (p.Val1211fs) rs1885757549
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs) rs1594280914
NM_020366.4(RPGRIP1):c.3726dup (p.Ile1243fs)
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020366.4(RPGRIP1):c.442A>T (p.Arg148Ter)
NM_020366.4(RPGRIP1):c.511del (p.Tyr171fs) rs61751265
NM_020366.4(RPGRIP1):c.521del (p.Pro174fs) rs1881077003
NM_020366.4(RPGRIP1):c.604_611del (p.Ser202fs)
NM_020366.4(RPGRIP1):c.664_665del (p.Asn222fs)
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.711del (p.Lys239fs) rs2139160608
NM_020366.4(RPGRIP1):c.767C>G (p.Ser256Ter) rs2139160679
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter) rs554396590
NM_020366.4(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.4(RPGRIP1):c.808_826del (p.Ser269_Ile270insTer) rs2139168888
NM_020366.4(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_020366.4(RPGRIP1):c.833del (p.Arg278fs)
NM_020366.4(RPGRIP1):c.853_854insGCCGAGTGCCTGCAATTGCAGGCGCGCGCCGCCACGCCTGACTGGTTTTCGTATTTTTTTGGTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGCTCTTACATG (p.Glu285delinsGlyArgValProAlaIleAlaGlyAlaArgArgHisAlaTer)
NM_020366.4(RPGRIP1):c.895_896del (p.Glu299fs) rs1594180177
NM_020366.4(RPGRIP1):c.931-2_935delinsT rs2139175288
NM_020366.4(RPGRIP1):c.[2079C>G];[2212_2215+21del]

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