ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 6

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NM_020366.3(RPGRIP1):c.*44T>C rs370767680
NM_020366.3(RPGRIP1):c.*76A>G
NM_020366.3(RPGRIP1):c.*81A>G rs182458550
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.1077+13A>G rs886050398
NM_020366.3(RPGRIP1):c.1078-9C>A rs371312060
NM_020366.3(RPGRIP1):c.116G>A (p.Ser39Asn)
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1200G>A (p.Glu400=) rs749098397
NM_020366.3(RPGRIP1):c.1208C>T (p.Ala403Val)
NM_020366.3(RPGRIP1):c.127C>T (p.Arg43Trp)
NM_020366.3(RPGRIP1):c.128G>A (p.Arg43Gln)
NM_020366.3(RPGRIP1):c.1306+3A>G
NM_020366.3(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466
NM_020366.3(RPGRIP1):c.1506C>A (p.Ser502=)
NM_020366.3(RPGRIP1):c.1506C>T (p.Ser502=) rs777877901
NM_020366.3(RPGRIP1):c.163G>A (p.Glu55Lys)
NM_020366.3(RPGRIP1):c.1726G>A (p.Glu576Lys)
NM_020366.3(RPGRIP1):c.173T>C (p.Met58Thr)
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.1761T>C (p.Ser587=)
NM_020366.3(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360
NM_020366.3(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311
NM_020366.3(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515
NM_020366.3(RPGRIP1):c.2063C>T (p.Ser688Leu)
NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966
NM_020366.3(RPGRIP1):c.218+13C>G rs200225522
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2331C>T (p.Thr777=) rs760801598
NM_020366.3(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743
NM_020366.3(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326
NM_020366.3(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019
NM_020366.3(RPGRIP1):c.2441G>T (p.Arg814Leu)
NM_020366.3(RPGRIP1):c.2466A>G (p.Pro822=)
NM_020366.3(RPGRIP1):c.2480G>A (p.Arg827His)
NM_020366.3(RPGRIP1):c.2507C>A (p.Thr836Asn)
NM_020366.3(RPGRIP1):c.2510C>G (p.Ala837Gly)
NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)
NM_020366.3(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506
NM_020366.3(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389
NM_020366.3(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252
NM_020366.3(RPGRIP1):c.262C>T (p.Leu88=)
NM_020366.3(RPGRIP1):c.2663G>A (p.Arg888Gln)
NM_020366.3(RPGRIP1):c.2700A>C (p.Glu900Asp) rs781608496
NM_020366.3(RPGRIP1):c.2710+11G>A
NM_020366.3(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926
NM_020366.3(RPGRIP1):c.2878G>T (p.Ala960Ser)
NM_020366.3(RPGRIP1):c.2924T>C (p.Ile975Thr) rs886050399
NM_020366.3(RPGRIP1):c.2930C>T (p.Ala977Val)
NM_020366.3(RPGRIP1):c.3055A>T (p.Met1019Leu) rs886050400
NM_020366.3(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074
NM_020366.3(RPGRIP1):c.310G>C (p.Gly104Arg) rs377018856
NM_020366.3(RPGRIP1):c.3171C>T (p.His1057=) rs201838837
NM_020366.3(RPGRIP1):c.3221C>G (p.Pro1074Arg)
NM_020366.3(RPGRIP1):c.3239-14C>T
NM_020366.3(RPGRIP1):c.3291C>T (p.Asp1097=)
NM_020366.3(RPGRIP1):c.3358A>C (p.Ile1120Leu)
NM_020366.3(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911
NM_020366.3(RPGRIP1):c.3364A>G (p.Ile1122Val)
NM_020366.3(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.3(RPGRIP1):c.3461C>G (p.Ser1154Trp)
NM_020366.3(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634
NM_020366.3(RPGRIP1):c.3570G>T (p.Arg1190Ser)
NM_020366.3(RPGRIP1):c.3571C>T (p.Arg1191Trp)
NM_020366.3(RPGRIP1):c.3760G>A (p.Glu1254Lys)
NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889
NM_020366.3(RPGRIP1):c.3779T>C (p.Ile1260Thr)
NM_020366.3(RPGRIP1):c.3787C>A (p.Leu1263Met)
NM_020366.3(RPGRIP1):c.3793_3794insGAAA (p.Val1265fs) rs1468976582
NM_020366.3(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397
NM_020366.3(RPGRIP1):c.386A>T (p.His129Leu)
NM_020366.3(RPGRIP1):c.437G>A (p.Gly146Glu)
NM_020366.3(RPGRIP1):c.491-3T>C
NM_020366.3(RPGRIP1):c.505C>T (p.Leu169=)
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.636G>A (p.Met212Ile)
NM_020366.3(RPGRIP1):c.640A>C (p.Lys214Gln) rs767213505
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.77C>T (p.Ala26Val)
NM_020366.3(RPGRIP1):c.787G>T (p.Ala263Ser)
NM_020366.3(RPGRIP1):c.846C>T (p.Leu282=)
NM_020366.3(RPGRIP1):c.874A>G (p.Met292Val)
NM_020366.3(RPGRIP1):c.907G>A (p.Ala303Thr)
NM_020366.3(RPGRIP1):c.912C>T (p.Tyr304=) rs568372341
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.