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

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Total variants: 90

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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

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