ClinVar Miner

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

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
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.218+1G>T rs546692544 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter) rs775935766 0.00003
NM_020366.4(RPGRIP1):c.3100-1G>A rs371900300 0.00003
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.1467+1G>A rs1167313603 0.00001
NM_020366.4(RPGRIP1):c.1763-2A>G rs771106795 0.00001
NM_020366.4(RPGRIP1):c.2236G>A (p.Gly746Arg) rs535695411 0.00001
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159 0.00001
NM_020366.4(RPGRIP1):c.3533-2A>G rs1416794391 0.00001
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln) rs758239674 0.00001
NM_020366.4(RPGRIP1):c.86-1G>A rs200968268 0.00001
NM_020366.4(RPGRIP1):c.931-2A>G rs374188857 0.00001
NC_000014.8:g.(?_21766946)_(21770647_?)del
NC_000014.8:g.(?_21769105)_(21794352_?)dup
NC_000014.8:g.(?_21798388)_(21798566_?)dup
NC_000014.8:g.(?_21819243)_(21819375_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NM_020366.4(RPGRIP1):c.1116del (p.Lys372fs) rs776880045
NM_020366.4(RPGRIP1):c.1152-1749_1763-1241del
NM_020366.4(RPGRIP1):c.14_29dup (p.Asp11fs) rs1181453325
NM_020366.4(RPGRIP1):c.1583_1596del (p.Leu528fs)
NM_020366.4(RPGRIP1):c.1611+27G>A rs1594203796
NM_020366.4(RPGRIP1):c.1612-2A>G
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs) rs1420750126
NM_020366.4(RPGRIP1):c.2021C>A (p.Pro674His)
NM_020366.4(RPGRIP1):c.219-2A>G rs1880999471
NM_020366.4(RPGRIP1):c.2215+2T>C
NM_020366.4(RPGRIP1):c.2216-1G>A rs970696880
NM_020366.4(RPGRIP1):c.2237G>A (p.Gly746Glu) rs61751268
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2386del (p.Glu796fs)
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys) rs751521888
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2795dup (p.Pro932_Glu933insTer)
NM_020366.4(RPGRIP1):c.2988del (p.Glu996fs) rs765001696
NM_020366.4(RPGRIP1):c.3120G>A (p.Trp1040Ter) rs1555303320
NM_020366.4(RPGRIP1):c.326G>A (p.Trp109Ter)
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter) rs2502980632
NM_020366.4(RPGRIP1):c.3679G>A (p.Gly1227Arg) rs1885763952
NM_020366.4(RPGRIP1):c.410dup (p.Arg138fs)
NM_020366.4(RPGRIP1):c.487del (p.Arg163fs) rs2502705961
NM_020366.4(RPGRIP1):c.521C>G (p.Pro174Arg) rs780733881
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter) rs2139160690
NM_020366.4(RPGRIP1):c.817A>T (p.Lys273Ter)
NM_020366.4(RPGRIP1):c.903_906+17del rs886039911
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201

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