ClinVar Miner

List of variants studied for Leber congenital amaurosis 6 by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21317696)_(21320177_?)del
NC_000014.9:g.(?_21317696)_(21330387_?)dup
NC_000014.9:g.(?_21320017)_(21334705_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.1078-9C>A
NM_020366.3(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308
NM_020366.3(RPGRIP1):c.128G>A (p.Arg43Gln)
NM_020366.3(RPGRIP1):c.1295C>T (p.Ser432Phe)
NM_020366.3(RPGRIP1):c.1306+3A>G
NM_020366.3(RPGRIP1):c.1608T>C (p.Tyr536=)
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.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910
NM_020366.3(RPGRIP1):c.1892A>G (p.His631Arg)
NM_020366.3(RPGRIP1):c.1899C>T (p.His633=)
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.2017C>T (p.Gln673Ter) rs1566341956
NM_020366.3(RPGRIP1):c.2037C>T (p.Thr679=)
NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966
NM_020366.3(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974
NM_020366.3(RPGRIP1):c.2292G>A (p.Ala764=) rs35207255
NM_020366.3(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701
NM_020366.3(RPGRIP1):c.2367+1G>A
NM_020366.3(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326
NM_020366.3(RPGRIP1):c.2417C>T (p.Thr806Ile) rs142796310
NM_020366.3(RPGRIP1):c.2435G>A (p.Arg812Gln)
NM_020366.3(RPGRIP1):c.2465_2468dup (p.Ala824fs)
NM_020366.3(RPGRIP1):c.2466A>G (p.Pro822=)
NM_020366.3(RPGRIP1):c.2490C>T (p.Thr830=)
NM_020366.3(RPGRIP1):c.2507C>A (p.Thr836Asn)
NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)
NM_020366.3(RPGRIP1):c.2550G>A (p.Gln850=)
NM_020366.3(RPGRIP1):c.256C>T (p.Arg86Trp) rs62646879
NM_020366.3(RPGRIP1):c.2599C>T (p.Arg867Trp) rs186803989
NM_020366.3(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926
NM_020366.3(RPGRIP1):c.2930C>T (p.Ala977Val)
NM_020366.3(RPGRIP1):c.3171C>T (p.His1057=)
NM_020366.3(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671
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.3447C>T (p.Tyr1149=)
NM_020366.3(RPGRIP1):c.3461C>G (p.Ser1154Trp)
NM_020366.3(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634
NM_020366.3(RPGRIP1):c.3533-4A>G
NM_020366.3(RPGRIP1):c.3546C>T (p.Asp1182=) rs34116882
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020366.3(RPGRIP1):c.3749-6C>A
NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889
NM_020366.3(RPGRIP1):c.386A>T (p.His129Leu)
NM_020366.3(RPGRIP1):c.437G>A (p.Gly146Glu)
NM_020366.3(RPGRIP1):c.450C>G (p.Leu150=) rs144585562
NM_020366.3(RPGRIP1):c.491-3T>C
NM_020366.3(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449
NM_020366.3(RPGRIP1):c.528G>A (p.Ser176=)
NM_020366.3(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220
NM_020366.3(RPGRIP1):c.543G>A (p.Ala181=)
NM_020366.3(RPGRIP1):c.636G>A (p.Met212Ile)
NM_020366.3(RPGRIP1):c.658A>G (p.Met220Val) rs371762530
NM_020366.3(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641
NM_020366.3(RPGRIP1):c.787G>T (p.Ala263Ser)
NM_020366.3(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343
NM_020366.3(RPGRIP1):c.874A>G (p.Met292Val)
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020366.3(RPGRIP1):c.931-2A>G rs374188857
NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462

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