ClinVar Miner

List of variants reported as uncertain significance for Occult macular dystrophy by Illumina Laboratory Services, Illumina

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_178857.6(RP1L1):c.6456T>G (p.Asp2152Glu) rs192863038 0.11752
NM_178857.6(RP1L1):c.6291A>G (p.Glu2097=) rs766503602 0.00737
NM_178857.6(RP1L1):c.-165G>A rs550213627 0.00261
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_178857.6(RP1L1):c.5996A>G (p.Asp1999Gly) rs868859888 0.00061
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_178857.6(RP1L1):c.4056A>G (p.Glu1352=) rs879146130 0.00051
NM_178857.6(RP1L1):c.6586A>G (p.Ile2196Val) rs200407750 0.00047
NM_178857.6(RP1L1):c.6237C>G (p.His2079Gln) rs201900673 0.00029
NM_178857.6(RP1L1):c.6394A>G (p.Ile2132Val) rs771928895 0.00026
NM_178857.6(RP1L1):c.*307T>C rs146542491 0.00021
NM_178857.6(RP1L1):c.6141T>G (p.Asp2047Glu) rs561890793 0.00019
NM_178857.6(RP1L1):c.675C>T (p.Phe225=) rs886062585 0.00016
NM_178857.6(RP1L1):c.*265G>T rs567494148 0.00013
NM_178857.6(RP1L1):c.*291C>T rs943409150 0.00007
NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser) rs754126350 0.00007
NM_178857.6(RP1L1):c.6429T>A (p.Pro2143=) rs1274870244 0.00007
NM_178857.6(RP1L1):c.-208C>A rs753924039 0.00006
NM_178857.6(RP1L1):c.4610C>T (p.Ala1537Val) rs375128393 0.00006
NM_178857.6(RP1L1):c.3743G>A (p.Gly1248Glu) rs370381949 0.00005
NM_178857.6(RP1L1):c.6729A>T (p.Gly2243=) rs991330347 0.00004
NM_178857.6(RP1L1):c.11C>A (p.Thr4Asn) rs754667501 0.00003
NM_178857.6(RP1L1):c.1821A>C (p.Thr607=) rs760134129 0.00003
NM_178857.6(RP1L1):c.3019G>A (p.Ala1007Thr) rs886062584 0.00003
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764 0.00003
NM_178857.6(RP1L1):c.428C>T (p.Ser143Phe) rs774003548 0.00003
NM_178857.6(RP1L1):c.6118G>T (p.Glu2040Ter) rs201774530 0.00003
NM_178857.6(RP1L1):c.4027G>A (p.Glu1343Lys) rs991739068 0.00002
NM_178857.6(RP1L1):c.5966C>T (p.Ala1989Val) rs749665716 0.00002
NM_178857.6(RP1L1):c.5967A>T (p.Ala1989=) rs780761304 0.00002
NM_178857.6(RP1L1):c.6136G>A (p.Gly2046Arg) rs748879695 0.00002
NM_178857.6(RP1L1):c.858C>T (p.Gly286=) rs757244182 0.00002
NM_178857.6(RP1L1):c.*122G>C rs551888547 0.00001
NM_178857.6(RP1L1):c.-226C>A rs888662577 0.00001
NM_178857.6(RP1L1):c.1271A>G (p.Lys424Arg) rs371110197 0.00001
NM_178857.6(RP1L1):c.1436G>A (p.Gly479Glu) rs867863562 0.00001
NM_178857.6(RP1L1):c.2037C>G (p.Asp679Glu) rs760621847 0.00001
NM_178857.6(RP1L1):c.2060C>T (p.Pro687Leu) rs775767928 0.00001
NM_178857.6(RP1L1):c.2205C>T (p.Thr735=) rs769558246 0.00001
NM_178857.6(RP1L1):c.2434C>T (p.Arg812Trp) rs761665772 0.00001
NM_178857.6(RP1L1):c.2435G>A (p.Arg812Gln) rs773952428 0.00001
NM_178857.6(RP1L1):c.2586C>T (p.Cys862=) rs1328808307 0.00001
NM_178857.6(RP1L1):c.3194C>T (p.Pro1065Leu) rs774639195 0.00001
NM_178857.6(RP1L1):c.3638G>A (p.Ser1213Asn) rs1240908237 0.00001
NM_178857.6(RP1L1):c.4971T>G (p.Cys1657Trp) rs748701232 0.00001
NM_178857.6(RP1L1):c.5281G>A (p.Gly1761Arg) rs764796563 0.00001
NM_178857.6(RP1L1):c.6468_6469dup (p.Ala2157fs) rs770652985 0.00001
NM_178857.6(RP1L1):c.6958C>T (p.Leu2320Phe) rs377646678 0.00001
NM_178857.6(RP1L1):c.7062G>C (p.Glu2354Asp) rs766768012 0.00001
NM_178857.6(RP1L1):c.7149C>A (p.Pro2383=) rs777397791 0.00001
NM_178857.6(RP1L1):c.919G>A (p.Asp307Asn) rs762473280 0.00001
NM_178857.6(RP1L1):c.960C>T (p.Ser320=) rs756449748 0.00001
NM_178857.6(RP1L1):c.*191C>G rs1797707312
NM_178857.6(RP1L1):c.*256G>A rs903135373
NM_178857.6(RP1L1):c.*367C>T rs1797704318
NM_178857.6(RP1L1):c.*441A>C rs1797703496
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.-143T>G rs989159394
NM_178857.6(RP1L1):c.-49G>A rs189109596
NM_178857.6(RP1L1):c.1179A>G (p.Glu393=) rs1426543260
NM_178857.6(RP1L1):c.1203A>C (p.Pro401=) rs1797894376
NM_178857.6(RP1L1):c.1340G>C (p.Arg447Thr) rs771401456
NM_178857.6(RP1L1):c.1568C>A (p.Pro523Gln) rs1288132145
NM_178857.6(RP1L1):c.1734C>T (p.Ala578=) rs755017588
NM_178857.6(RP1L1):c.1806G>C (p.Thr602=) rs374308509
NM_178857.6(RP1L1):c.1835T>A (p.Val612Asp) rs1585968267
NM_178857.6(RP1L1):c.1862C>G (p.Ser621Trp) rs778222700
NM_178857.6(RP1L1):c.1916G>A (p.Arg639Lys) rs1797874259
NM_178857.6(RP1L1):c.2068C>G (p.Pro690Ala) rs1036667471
NM_178857.6(RP1L1):c.2235C>T (p.His745=) rs1797864170
NM_178857.6(RP1L1):c.2399C>T (p.Pro800Leu) rs904894112
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.275C>T (p.Ala92Val) rs886062586
NM_178857.6(RP1L1):c.2915C>G (p.Thr972Arg) rs374466650
NM_178857.6(RP1L1):c.2954G>A (p.Gly985Asp) rs886258480
NM_178857.6(RP1L1):c.2992C>A (p.His998Asn) rs377428634
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.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.3944T>C (p.Leu1315Pro) rs759437518
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.4038A>G (p.Gly1346=) rs1240760978
NM_178857.6(RP1L1):c.4058A>G (p.Glu1353Gly) rs747592079
NM_178857.6(RP1L1):c.4088GAG[1] (p.Gly1364del) rs886062578
NM_178857.6(RP1L1):c.40C>G (p.Arg14Gly) rs765708710
NM_178857.6(RP1L1):c.4223A>G (p.Gln1408Arg) rs758358467
NM_178857.6(RP1L1):c.4831C>G (p.Arg1611Gly) rs199604262
NM_178857.6(RP1L1):c.5600C>A (p.Ala1867Asp) rs886062577
NM_178857.6(RP1L1):c.5652G>C (p.Gln1884His) rs372030347
NM_178857.6(RP1L1):c.568C>A (p.Arg190Ser) rs202110498
NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp) rs774309647
NM_178857.6(RP1L1):c.5776G>T (p.Glu1926Ter) rs762800376
NM_178857.6(RP1L1):c.5876A>G (p.Glu1959Gly) rs1797749286
NM_178857.6(RP1L1):c.5957C>T (p.Thr1986Ile) rs1797747127
NM_178857.6(RP1L1):c.6015T>A (p.Ala2005=) rs1204692440
NM_178857.6(RP1L1):c.6136G>T (p.Gly2046Trp) rs748879695
NM_178857.6(RP1L1):c.6258T>G (p.Asp2086Glu) rs1465387690
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.6329C>T (p.Ala2110Val) rs886062576
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.6626T>C (p.Leu2209Ser) rs1181387936
NM_178857.6(RP1L1):c.6658G>T (p.Glu2220Ter) rs1563119360
NM_178857.6(RP1L1):c.6688A>G (p.Thr2230Ala) rs1309682116
NM_178857.6(RP1L1):c.6733A>T (p.Thr2245Ser) rs770960261
NM_178857.6(RP1L1):c.7117C>T (p.Gln2373Ter) rs759654067
NM_178857.6(RP1L1):c.72C>A (p.Thr24=) rs760022316

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