ClinVar Miner

List of variants in gene RPGRIP1L reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575 0.00002
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_015272.5(RPGRIP1L):c.1351-11A>G rs750076702 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449 0.00001
NM_015272.5(RPGRIP1L):c.149del (p.Leu50fs) rs1200063571 0.00001
NM_015272.5(RPGRIP1L):c.1645G>T (p.Glu549Ter) rs1676833644 0.00001
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg) rs772900011 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.1905T>G (p.Tyr635Ter) rs1353551542 0.00001
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) rs751477523 0.00001
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.2299C>T (p.Gln767Ter) rs1326042797 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs) rs771129715 0.00001
NM_015272.5(RPGRIP1L):c.2582dup (p.Ser862fs) rs779776673 0.00001
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter) rs547189939 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NC_000016.10:g.(?_53619015)_(53622366_?)del
NC_000016.10:g.(?_53619025)_(53622456_?)del
NC_000016.9:g.(?_53639383)_(53698931_?)del
NC_000016.9:g.(?_53644869)_(53644973_?)del
NC_000016.9:g.(?_53652917)_(53656288_?)del
NC_000016.9:g.(?_53674925)_(53734635_?)del
NC_000016.9:g.(?_53690364)_(53709054_?)del
NC_000016.9:g.(?_53691355)_(53692800_?)del
NC_000016.9:g.(?_53692306)_(53698941_?)del
NC_000016.9:g.(?_53692402)_(53694155_?)del
NC_000016.9:g.(?_53698762)_(53698941_?)del
NC_000016.9:g.(?_53698772)_(53734645_?)del
NC_000016.9:g.(?_53705412)_(53705505_?)del
NC_000016.9:g.(?_53705412)_(53706938_?)del
NC_000016.9:g.(?_53705412)_(53721887_?)del
NC_000016.9:g.(?_53706762)_(53709054_?)del
NC_000016.9:g.(?_53708919)_(53709044_?)del
NC_000016.9:g.(?_53720325)_(53721897_?)del
NC_000016.9:g.(?_53720335)_(53721887_?)del
NC_000016.9:g.(?_53720345)_(53721877_?)del
NC_000016.9:g.(?_53721765)_(53721887_?)del
NC_000016.9:g.(?_53721765)_(53734645_?)del
NC_000016.9:g.(?_53729213)_(53730217_?)del
NC_000016.9:g.(?_53734541)_(53734645_?)del
NM_015272.5(RPGRIP1L):c.1033C>T (p.Gln345Ter) rs121918202
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter) rs1968731636
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1097_1098del (p.Leu365_Tyr366insTer)
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.1134del (p.Gln377_Trp378insTer)
NM_015272.5(RPGRIP1L):c.1150C>T (p.Gln384Ter) rs1968112121
NM_015272.5(RPGRIP1L):c.1158del (p.Val387fs)
NM_015272.5(RPGRIP1L):c.1171C>T (p.Gln391Ter) rs2151198563
NM_015272.5(RPGRIP1L):c.1213G>T (p.Glu405Ter)
NM_015272.5(RPGRIP1L):c.1217del (p.Ile406fs)
NM_015272.5(RPGRIP1L):c.1225A>T (p.Arg409Ter) rs2151198227
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1246C>T (p.Gln416Ter)
NM_015272.5(RPGRIP1L):c.1252G>T (p.Glu418Ter) rs1967512180
NM_015272.5(RPGRIP1L):c.1271del (p.Asn424fs)
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs) rs1967510088
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs) rs1381634873
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.132dup (p.Val45fs)
NM_015272.5(RPGRIP1L):c.1340del (p.Leu447fs)
NM_015272.5(RPGRIP1L):c.1403del (p.Ala468fs) rs2151157545
NM_015272.5(RPGRIP1L):c.1414_1417del (p.Gln472fs) rs2151157384
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1421dup (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1445_1446dup (p.Val483fs)
NM_015272.5(RPGRIP1L):c.1464del (p.Asn488fs)
NM_015272.5(RPGRIP1L):c.1566_1569del (p.Asn523fs) rs2151156278
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs) rs771264753
NM_015272.5(RPGRIP1L):c.1608_1614del (p.Met537fs) rs2151150644
NM_015272.5(RPGRIP1L):c.1641dup (p.Val548fs)
NM_015272.5(RPGRIP1L):c.1692del (p.Lys564fs)
NM_015272.5(RPGRIP1L):c.1702C>T (p.Gln568Ter)
NM_015272.5(RPGRIP1L):c.1708_1709insTT (p.Lys570fs)
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.170T>A (p.Leu57Ter) rs2151379380
NM_015272.5(RPGRIP1L):c.1732C>T (p.Gln578Ter)
NM_015272.5(RPGRIP1L):c.1745_1749del (p.Lys582fs) rs754766543
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1805del (p.Arg602fs)
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter) rs1156977888
NM_015272.5(RPGRIP1L):c.1914T>A (p.Tyr638Ter)
NM_015272.5(RPGRIP1L):c.1920dup (p.Glu641Ter) rs2151126581
NM_015272.5(RPGRIP1L):c.1951del (p.Leu651fs)
NM_015272.5(RPGRIP1L):c.1959del (p.Glu654fs) rs2151126163
NM_015272.5(RPGRIP1L):c.1978C>T (p.Gln660Ter) rs2151125946
NM_015272.5(RPGRIP1L):c.2003T>A (p.Leu668Ter)
NM_015272.5(RPGRIP1L):c.2009dup (p.Leu670fs)
NM_015272.5(RPGRIP1L):c.2018_2021dup (p.Gln674fs)
NM_015272.5(RPGRIP1L):c.2027del (p.Asn676fs) rs2151125463
NM_015272.5(RPGRIP1L):c.2092_2095del (p.Leu698fs)
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter) rs199975230
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2149_2152del (p.Ile717fs) rs763685772
NM_015272.5(RPGRIP1L):c.2201_2213del (p.Arg734fs)
NM_015272.5(RPGRIP1L):c.2221C>T (p.Gln741Ter)
NM_015272.5(RPGRIP1L):c.2223del (p.Ala742fs) rs2151102253
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.225dup (p.Lys76Ter)
NM_015272.5(RPGRIP1L):c.2262del (p.Tyr755fs)
NM_015272.5(RPGRIP1L):c.2288dup (p.Glu764fs)
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter) rs542206983
NM_015272.5(RPGRIP1L):c.2305-1G>C rs863225215
NM_015272.5(RPGRIP1L):c.231-2A>G
NM_015272.5(RPGRIP1L):c.2322del (p.Thr776fs) rs1253568005
NM_015272.5(RPGRIP1L):c.2332C>T (p.Gln778Ter)
NM_015272.5(RPGRIP1L):c.2335dup (p.Leu779fs)
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs) rs1966516920
NM_015272.5(RPGRIP1L):c.2397C>A (p.Cys799Ter) rs758547965
NM_015272.5(RPGRIP1L):c.2428C>T (p.Gln810Ter)
NM_015272.5(RPGRIP1L):c.2432del (p.Pro811fs) rs1966511029
NM_015272.5(RPGRIP1L):c.2435_2436dup (p.Pro813fs)
NM_015272.5(RPGRIP1L):c.2451C>A (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs) rs1966507642
NM_015272.5(RPGRIP1L):c.2493del (p.Ser832fs) rs746792129
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2565C>A (p.Tyr855Ter)
NM_015272.5(RPGRIP1L):c.2566del (p.Lys857fs)
NM_015272.5(RPGRIP1L):c.256_259del (p.Val86fs) rs751020468
NM_015272.5(RPGRIP1L):c.2573C>A (p.Ser858Ter)
NM_015272.5(RPGRIP1L):c.2576_2577del (p.Glu859fs)
NM_015272.5(RPGRIP1L):c.2591_2592del (p.Tyr864fs) rs772028612
NM_015272.5(RPGRIP1L):c.2643_2671del (p.Asn881fs) rs886041824
NM_015272.5(RPGRIP1L):c.269_273del (p.Lys90fs) rs2151353922
NM_015272.5(RPGRIP1L):c.2711del (p.Lys904fs) rs2151060082
NM_015272.5(RPGRIP1L):c.2715del (p.Pro906fs) rs2151060021
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter) rs1966212821
NM_015272.5(RPGRIP1L):c.2816_2817del (p.Glu939fs)
NM_015272.5(RPGRIP1L):c.2851_2863del (p.Ser951fs)
NM_015272.5(RPGRIP1L):c.2855_2856del (p.Ser952fs) rs2151058791
NM_015272.5(RPGRIP1L):c.2920A>T (p.Lys974Ter)
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.2981_2982insCA (p.Arg995fs) rs2151040565
NM_015272.5(RPGRIP1L):c.2996C>G (p.Ser999Ter)
NM_015272.5(RPGRIP1L):c.299del (p.Lys100fs)
NM_015272.5(RPGRIP1L):c.3067C>T (p.Gln1023Ter)
NM_015272.5(RPGRIP1L):c.3141_3144del (p.Ser1048fs)
NM_015272.5(RPGRIP1L):c.3160G>T (p.Glu1054Ter)
NM_015272.5(RPGRIP1L):c.3208_3214del (p.Leu1070fs)
NM_015272.5(RPGRIP1L):c.3257_3258del (p.Cys1086fs)
NM_015272.5(RPGRIP1L):c.325G>T (p.Glu109Ter)
NM_015272.5(RPGRIP1L):c.3277del (p.Ser1093fs)
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3380del (p.Pro1127fs)
NM_015272.5(RPGRIP1L):c.3430C>T (p.Gln1144Ter)
NM_015272.5(RPGRIP1L):c.3439G>T (p.Glu1147Ter)
NM_015272.5(RPGRIP1L):c.3445dup (p.Ile1149fs)
NM_015272.5(RPGRIP1L):c.3457del (p.Ile1153fs)
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs) rs1964561986
NM_015272.5(RPGRIP1L):c.3558_3559del (p.Pro1187fs)
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs) rs1200131247
NM_015272.5(RPGRIP1L):c.3593G>A (p.Trp1198Ter)
NM_015272.5(RPGRIP1L):c.3605_3608del (p.Asn1202fs) rs2150964195
NM_015272.5(RPGRIP1L):c.3607del (p.Tyr1203fs) rs2150964205
NM_015272.5(RPGRIP1L):c.360_388dup (p.Lys130fs) rs2151352672
NM_015272.5(RPGRIP1L):c.3628dup (p.Asp1210fs) rs2150938444
NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs) rs1964001995
NM_015272.5(RPGRIP1L):c.3655_3658dup (p.Ile1220fs)
NM_015272.5(RPGRIP1L):c.3682C>T (p.Gln1228Ter)
NM_015272.5(RPGRIP1L):c.377_378insGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAACCAAAACAGCATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAACAAAA (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.377del (p.Asn126fs)
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.414del (p.Gln138fs)
NM_015272.5(RPGRIP1L):c.421C>T (p.Gln141Ter) rs2151352275
NM_015272.5(RPGRIP1L):c.427C>T (p.Gln143Ter) rs1970430433
NM_015272.5(RPGRIP1L):c.496G>T (p.Glu166Ter) rs2151351169
NM_015272.5(RPGRIP1L):c.511C>T (p.Gln171Ter)
NM_015272.5(RPGRIP1L):c.528del (p.Gly177fs) rs1970421631
NM_015272.5(RPGRIP1L):c.541C>T (p.Gln181Ter)
NM_015272.5(RPGRIP1L):c.550_551insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATTCCAAGATGCAG (p.Asp184delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerTer) rs2151325681
NM_015272.5(RPGRIP1L):c.591_598del (p.Asn198fs)
NM_015272.5(RPGRIP1L):c.591del (p.Asn198fs) rs1283508618
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.616G>T (p.Gly206Ter)
NM_015272.5(RPGRIP1L):c.632T>A (p.Leu211Ter)
NM_015272.5(RPGRIP1L):c.647del (p.Gln216fs)
NM_015272.5(RPGRIP1L):c.659del (p.Gly220fs)
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.663_664dup (p.Ile222fs) rs2151318273
NM_015272.5(RPGRIP1L):c.676G>T (p.Glu226Ter) rs2151318201
NM_015272.5(RPGRIP1L):c.707T>A (p.Leu236Ter)
NM_015272.5(RPGRIP1L):c.712del (p.Arg238fs) rs2151317974
NM_015272.5(RPGRIP1L):c.723_726del (p.Asn241fs) rs386833998
NM_015272.5(RPGRIP1L):c.734T>G (p.Leu245Ter)
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter) rs1970021137
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.772C>T (p.Gln258Ter) rs1970017927
NM_015272.5(RPGRIP1L):c.779C>G (p.Ser260Ter)
NM_015272.5(RPGRIP1L):c.839del (p.Asn280fs)
NM_015272.5(RPGRIP1L):c.883_884insT (p.Lys295fs)
NM_015272.5(RPGRIP1L):c.899_900del (p.Arg300fs)
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) rs1598375579
NM_015272.5(RPGRIP1L):c.950_951del (p.Leu317fs) rs2151245549
NM_015272.5(RPGRIP1L):c.952A>T (p.Lys318Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs) rs1470967742
NM_015272.5(RPGRIP1L):c.988C>T (p.Gln330Ter) rs771058410

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