ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
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HGVS dbSNP
NC_000016.10:g.(?_53619015)_(53622366_?)del
NC_000016.10:g.(?_53619025)_(53622456_?)del
NM_015272.5(RPGRIP1L):c.1052T>A (p.Leu351Ter)
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
NM_015272.5(RPGRIP1L):c.1278del (p.Glu426fs)
NM_015272.5(RPGRIP1L):c.1290_1291del (p.Tyr431fs)
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1603del (p.Arg535fs)
NM_015272.5(RPGRIP1L):c.1649A>G (p.Gln550Arg)
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter) rs1156977888
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter) rs751477523
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter) rs751444506
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2104G>T (p.Glu702Ter)
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2230C>T (p.Arg744Ter) rs267604575
NM_015272.5(RPGRIP1L):c.2303C>A (p.Ser768Ter)
NM_015272.5(RPGRIP1L):c.2354_2367delinsTTAC (p.Thr785fs)
NM_015272.5(RPGRIP1L):c.2466del (p.Phe822fs)
NM_015272.5(RPGRIP1L):c.2468_2477del (p.Ala823fs)
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015272.5(RPGRIP1L):c.2760C>A (p.Tyr920Ter)
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.310C>T (p.Arg104Ter)
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
NM_015272.5(RPGRIP1L):c.3297_3298TC[3] (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3461dup (p.Ala1155fs)
NM_015272.5(RPGRIP1L):c.3556_3557AC[3] (p.Pro1187fs)
NM_015272.5(RPGRIP1L):c.3647_3651del (p.Ala1216fs)
NM_015272.5(RPGRIP1L):c.394A>T (p.Arg132Ter) rs121918201
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.65_66dup (p.Gly23fs) rs1567902051
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015272.5(RPGRIP1L):c.745C>T (p.Gln249Ter)
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter) rs1598375579
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs) rs1470967742

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