ClinVar Miner

List of variants in gene RPGRIP1L studied for Joubert syndrome

Included ClinVar conditions (57):
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NM_015272.4(RPGRIP1L):c.3617-13dupT rs750499169
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027
NM_015272.5(RPGRIP1L):c.1681C>T (p.Arg561Cys)
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.1709A>G (p.Lys570Arg) rs111459222
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131
NM_015272.5(RPGRIP1L):c.1772T>C (p.Val591Ala) rs201131571
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
NM_015272.5(RPGRIP1L):c.1886C>T (p.Pro629Leu)
NM_015272.5(RPGRIP1L):c.1939G>A (p.Val647Ile)
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2173A>G (p.Asn725Asp) rs373201651
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.2293_2301del (p.His765_Gln767del) rs1555602657
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136
NM_015272.5(RPGRIP1L):c.2399A>C (p.Asn800Thr)
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2789A>C (p.Glu930Ala) rs374694596
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2806A>G (p.Ile936Val)
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met) rs367845452
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177
NM_015272.5(RPGRIP1L):c.3211G>A (p.Glu1071Lys) rs864622470
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3301G>A (p.Ala1101Thr) rs539084201
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3464C>T (p.Ala1155Val) rs1436841364
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.3617-2A>G
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923
NM_015272.5(RPGRIP1L):c.3778G>A (p.Val1260Ile) rs781401167
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.767C>T (p.Thr256Ile) rs151174849
NM_015272.5(RPGRIP1L):c.883-2A>G
NM_015272.5(RPGRIP1L):c.910G>A (p.Asp304Asn) rs530772984
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
RPGRIP1L, 1-BP DEL, 1721A

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