ClinVar Miner

List of variants reported as uncertain significance for Cone-rod dystrophy 13; Leber congenital amaurosis 6

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Total variants: 76
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HGVS dbSNP
NC_000014.9:g.(?_21287977)_(21288061_?)dup
NC_000014.9:g.(?_21327623)_(21330387_?)del
NC_000014.9:g.21294815T>C
NC_000014.9:g.21301075C>T
NC_000014.9:g.21301205C>G
NC_000014.9:g.21303363G>T
NC_000014.9:g.21311832A>T
NC_000014.9:g.21311850T>G
NC_000014.9:g.21311878C>G
NC_000014.9:g.21311905A>G
NC_000014.9:g.21311911G>T
NC_000014.9:g.21312429T>G
NC_000014.9:g.21312458A>G
NM_001377523.1(RPGRIP1):c.1201C>G (p.Leu401Val)
NM_001377523.1(RPGRIP1):c.1216+4T>C
NM_001377523.1(RPGRIP1):c.1216+5T>A
NM_001377523.1(RPGRIP1):c.1295T>C (p.Met432Thr)
NM_001377523.1(RPGRIP1):c.1380_1382del (p.Met460_Ser461delinsIle)
NM_001377523.1(RPGRIP1):c.1426G>A (p.Asp476Asn)
NM_001377523.1(RPGRIP1):c.1432C>T (p.Pro478Ser)
NM_001377523.1(RPGRIP1):c.1757T>A (p.Ile586Lys)
NM_001377523.1(RPGRIP1):c.278A>C (p.Lys93Thr)
NM_001377523.1(RPGRIP1):c.578A>G (p.Asn193Ser)
NM_001377523.1(RPGRIP1):c.688+2647C>T
NM_001377523.1(RPGRIP1):c.688+2653C>G
NM_001377523.1(RPGRIP1):c.689-1491G>A
NM_001377523.1(RPGRIP1):c.689-1546A>G
NM_001377523.1(RPGRIP1):c.689-1560G>A
NM_001377523.1(RPGRIP1):c.689-1681C>T
NM_001377523.1(RPGRIP1):c.689-2271T>C
NM_001377523.1(RPGRIP1):c.689-2277C>G
NM_001377523.1(RPGRIP1):c.689-2304G>A
NM_001377523.1(RPGRIP1):c.689-2310A>G
NM_001377523.1(RPGRIP1):c.910G>A (p.Gly304Ser)
NM_001377523.1(RPGRIP1):c.971A>G (p.Gln324Arg)
NM_001377523.1(RPGRIP1):c.99C>G (p.Ser33Arg)
NM_001377951.1(RPGRIP1):c.-36G>A
NM_001377951.1(RPGRIP1):c.-36G>T
NM_020366.3(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691
NM_020366.3(RPGRIP1):c.128G>A (p.Arg43Gln)
NM_020366.3(RPGRIP1):c.1306+3A>G
NM_020366.3(RPGRIP1):c.161G>A (p.Arg54His) rs376250340
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.2063C>T (p.Ser688Leu)
NM_020366.3(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966
NM_020366.3(RPGRIP1):c.2398G>A (p.Glu800Lys) rs565837539
NM_020366.3(RPGRIP1):c.2466A>G (p.Pro822=)
NM_020366.3(RPGRIP1):c.2507C>A (p.Thr836Asn)
NM_020366.3(RPGRIP1):c.2512A>G (p.Ile838Val)
NM_020366.3(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375
NM_020366.3(RPGRIP1):c.2930C>T (p.Ala977Val)
NM_020366.3(RPGRIP1):c.3221C>G (p.Pro1074Arg)
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.3749-2A>G rs376517859
NM_020366.3(RPGRIP1):c.3766C>G (p.Leu1256Val) rs1405508889
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.564A>G (p.Glu188=) rs574462207
NM_020366.3(RPGRIP1):c.636G>A (p.Met212Ile)
NM_020366.3(RPGRIP1):c.787G>T (p.Ala263Ser)
NM_020366.3(RPGRIP1):c.874A>G (p.Met292Val)
NM_020366.3(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462

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