ClinVar Miner

List of variants in gene RP1L1 reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Total variants: 85
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HGVS dbSNP
NM_178857.6(RP1L1):c.*265G>T rs567494148
NM_178857.6(RP1L1):c.*495G>A rs886062572
NM_178857.6(RP1L1):c.*99C>A rs886062573
NM_178857.6(RP1L1):c.-12A>C rs762179825
NM_178857.6(RP1L1):c.-208C>A rs753924039
NM_178857.6(RP1L1):c.1067A>T (p.Asp356Val) rs750107135
NM_178857.6(RP1L1):c.1090C>G (p.Pro364Ala) rs372699223
NM_178857.6(RP1L1):c.109A>G (p.Thr37Ala) rs755268691
NM_178857.6(RP1L1):c.117C>G (p.Leu39=) rs751004024
NM_178857.6(RP1L1):c.1268G>C (p.Arg423Pro) rs566321002
NM_178857.6(RP1L1):c.1271A>G (p.Lys424Arg) rs371110197
NM_178857.6(RP1L1):c.1273A>C (p.Arg425=) rs377274495
NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp) rs267607017
NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr) rs771401456
NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) rs867863562
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.1821A>C (p.Thr607=) rs760134129
NM_178857.6(RP1L1):c.1862C>G (p.Ser621Trp) rs778222700
NM_178857.6(RP1L1):c.2037C>G (p.Asp679Glu) rs760621847
NM_178857.6(RP1L1):c.2191G>A (p.Asp731Asn) rs768251529
NM_178857.6(RP1L1):c.23C>G (p.Ala8Gly) rs886062587
NM_178857.6(RP1L1):c.2413C>G (p.Pro805Ala) rs753260358
NM_178857.6(RP1L1):c.2732G>T (p.Ser911Ile) rs757352407
NM_178857.6(RP1L1):c.2751G>A (p.Ala917=) rs373883834
NM_178857.6(RP1L1):c.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg) rs200981366
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350
NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg) rs374466650
NM_178857.6(RP1L1):c.2928G>A (p.Ala976=) rs770072844
NM_178857.6(RP1L1):c.2992C>A (p.His998Asn) rs377428634
NM_178857.6(RP1L1):c.3019G>A (p.Ala1007Thr) rs886062584
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195
NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=) rs200462441
NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=) rs779905669
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=) rs374612639
NM_178857.6(RP1L1):c.3304G>C (p.Glu1102Gln) rs575772322
NM_178857.6(RP1L1):c.3378G>A (p.Gln1126=) rs886062583
NM_178857.6(RP1L1):c.3431C>G (p.Ser1144Cys) rs763480431
NM_178857.6(RP1L1):c.3660C>T (p.Asp1220=) rs375441998
NM_178857.6(RP1L1):c.3664A>G (p.Thr1222Ala) rs886062582
NM_178857.6(RP1L1):c.3732T>G (p.Tyr1244Ter) rs373278754
NM_178857.6(RP1L1):c.3836A>C (p.Asp1279Ala) rs886062581
NM_178857.6(RP1L1):c.3921A>G (p.Lys1307=) rs747175462
NM_178857.6(RP1L1):c.3956delinsGGGTGCAGTTAGAGGAAACTAAAACAGAAGAAGGGCTGCAAGAAGAGAG (p.Ala1319delinsGlyValGlnLeuGluGluThrLysThrGluGluGlyLeuGlnGluGluArg) rs886062580
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_178857.6(RP1L1):c.4019_4027delinsGGACTA (p.Glu1340_Glu1343delinsGlyThrLys) rs886062579
NM_178857.6(RP1L1):c.4027_4029del (p.Glu1343del) rs143686100
NM_178857.6(RP1L1):c.4062G>A (p.Ala1354=) rs375108865
NM_178857.6(RP1L1):c.4088_4090GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly) rs765708710
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548
NM_178857.6(RP1L1):c.4542C>T (p.Cys1514=) rs773430949
NM_178857.6(RP1L1):c.4577C>T (p.Thr1526Met) rs267601688
NM_178857.6(RP1L1):c.4594G>A (p.Ala1532Thr) rs200131312
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393
NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=) rs754155146
NM_178857.6(RP1L1):c.4795C>G (p.Leu1599Val) rs201524117
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.5483A>C (p.Gln1828Pro) rs772616971
NM_178857.6(RP1L1):c.5589T>A (p.Ala1863=) rs199577777
NM_178857.6(RP1L1):c.5598G>T (p.Glu1866Asp) rs181718385
NM_178857.6(RP1L1):c.5600C>A (p.Ala1867Asp) rs886062577
NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser) rs202110498
NM_178857.6(RP1L1):c.5776G>T (p.Glu1926Ter) rs762800376
NM_178857.6(RP1L1):c.5821C>G (p.Gln1941Glu) rs201017122
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530
NM_178857.6(RP1L1):c.6136G>A (p.Gly2046Arg) rs748879695
NM_178857.6(RP1L1):c.6159C>T (p.Asp2053=) rs368139274
NM_178857.6(RP1L1):c.6329C>T (p.Ala2110Val) rs886062576
NM_178857.6(RP1L1):c.6380C>T (p.Pro2127Leu) rs375714703
NM_178857.6(RP1L1):c.6468_6469dup (p.Ala2157fs) rs770652985
NM_178857.6(RP1L1):c.6522A>G (p.Gln2174=) rs780796353
NM_178857.6(RP1L1):c.6597A>G (p.Pro2199=) rs886062575
NM_178857.6(RP1L1):c.6603A>T (p.Ala2201=) rs886062574
NM_178857.6(RP1L1):c.6658G>T (p.Glu2220Ter) rs1563119360
NM_178857.6(RP1L1):c.675C>T (p.Phe225=) rs886062585
NM_178857.6(RP1L1):c.7062G>C (p.Glu2354Asp) rs766768012
NM_178857.6(RP1L1):c.7117C>T (p.Gln2373Ter) rs759654067
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995
NM_178857.6(RP1L1):c.960C>T (p.Ser320=) rs756449748
NM_178857.6(RP1L1):c.9C>T (p.Ser3=) rs367930443

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