ClinVar Miner

List of variants in gene SNRNP200 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP gnomAD frequency
NM_014014.5(SNRNP200):c.5755-20A>G rs3214063 0.31866
NM_014014.5(SNRNP200):c.3550T>C (p.Leu1184=) rs3171927 0.22368
NM_014014.5(SNRNP200):c.5386C>T (p.Leu1796=) rs34435094 0.02646
NM_014014.5(SNRNP200):c.2422-8C>T rs79583389 0.02643
NM_014014.5(SNRNP200):c.5775C>G (p.Ala1925=) rs72825880 0.01765
NM_014014.5(SNRNP200):c.210-11A>T rs113877776 0.00739
NM_014014.5(SNRNP200):c.5933G>C (p.Gly1978Ala) rs75956769 0.00593
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_014014.5(SNRNP200):c.3654C>T (p.Ser1218=) rs3214060 0.00353
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_014014.5(SNRNP200):c.5664C>T (p.His1888=) rs139731897 0.00289
NM_014014.5(SNRNP200):c.5418C>T (p.Asp1806=) rs72937669 0.00267
NM_014014.5(SNRNP200):c.*101A>G rs184527047 0.00193
NM_014014.5(SNRNP200):c.*37A>G rs189361486 0.00183
NM_014014.5(SNRNP200):c.3315A>G (p.Ala1105=) rs151063400 0.00165
NM_014014.5(SNRNP200):c.5766C>T (p.Leu1922=) rs147427344 0.00133
NM_014014.5(SNRNP200):c.*61T>C rs571136350 0.00130
NM_014014.5(SNRNP200):c.3005A>G (p.Asn1002Ser) rs143529458 0.00093
NM_014014.5(SNRNP200):c.*331G>C rs557818805 0.00073
NM_014014.5(SNRNP200):c.1854T>C (p.His618=) rs147622706 0.00056
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_014014.5(SNRNP200):c.574+9G>A rs145559167 0.00045
NM_014014.5(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320 0.00042
NM_014014.5(SNRNP200):c.982+10T>C rs371450437 0.00040
NM_014014.5(SNRNP200):c.3640-15T>C rs200824314 0.00036
NM_014014.5(SNRNP200):c.4448G>A (p.Arg1483Gln) rs779888644 0.00032
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152 0.00026
NM_014014.5(SNRNP200):c.578A>G (p.Asp193Gly) rs144423660 0.00024
NM_014014.5(SNRNP200):c.2665A>G (p.Ile889Val) rs140087655 0.00023
NM_014014.5(SNRNP200):c.46-7T>C rs373701482 0.00022
NM_014014.5(SNRNP200):c.3924C>T (p.Pro1308=) rs765746512 0.00020
NM_014014.5(SNRNP200):c.2122G>A (p.Val708Ile) rs191245006 0.00019
NM_014014.5(SNRNP200):c.4678A>G (p.Ile1560Val) rs78715863 0.00018
NM_014014.5(SNRNP200):c.4029C>T (p.Asp1343=) rs145242546 0.00017
NM_014014.5(SNRNP200):c.390T>C (p.Asp130=) rs138291954 0.00016
NM_014014.5(SNRNP200):c.5409C>T (p.Ser1803=) rs139137932 0.00016
NM_014014.5(SNRNP200):c.5538C>T (p.Ile1846=) rs201513678 0.00015
NM_014014.5(SNRNP200):c.1770C>T (p.Pro590=) rs767156266 0.00014
NM_014014.5(SNRNP200):c.4393-10C>T rs372636600 0.00014
NM_014014.5(SNRNP200):c.4056G>A (p.Thr1352=) rs758645617 0.00011
NM_014014.5(SNRNP200):c.423T>C (p.Ala141=) rs140702204 0.00011
NM_014014.5(SNRNP200):c.*100C>T rs3214064 0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014014.5(SNRNP200):c.2984A>G (p.Asn995Ser) rs143494993 0.00010
NM_014014.5(SNRNP200):c.87C>T (p.Asp29=) rs140629902 0.00010
NM_014014.5(SNRNP200):c.90G>C (p.Arg30=) rs374762800 0.00009
NM_014014.5(SNRNP200):c.6093-6C>T rs202243080 0.00008
NM_014014.5(SNRNP200):c.4943G>A (p.Arg1648Gln) rs200426430 0.00007
NM_014014.5(SNRNP200):c.1485G>A (p.Thr495=) rs142142479 0.00006
NM_014014.5(SNRNP200):c.3690C>T (p.Ser1230=) rs200634658 0.00006
NM_014014.5(SNRNP200):c.1098C>T (p.Thr366=) rs774935614 0.00005
NM_014014.5(SNRNP200):c.4721T>C (p.Ile1574Thr) rs199736893 0.00005
NM_014014.5(SNRNP200):c.4966G>A (p.Val1656Met) rs142585893 0.00005
NM_014014.5(SNRNP200):c.5457C>T (p.Ala1819=) rs148995951 0.00005
NM_014014.5(SNRNP200):c.2005C>T (p.Pro669Ser) rs749791210 0.00004
NM_014014.5(SNRNP200):c.2716G>A (p.Val906Met) rs769979612 0.00004
NM_014014.5(SNRNP200):c.4377C>T (p.Ile1459=) rs191438128 0.00004
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) rs377641548 0.00004
NM_014014.5(SNRNP200):c.651C>T (p.Tyr217=) rs147219591 0.00004
NM_014014.5(SNRNP200):c.*287C>G rs754113881 0.00003
NM_014014.5(SNRNP200):c.210-8T>G rs950646900 0.00003
NM_014014.5(SNRNP200):c.2927C>T (p.Thr976Met) rs368406136 0.00003
NM_014014.5(SNRNP200):c.*333G>A rs886056455 0.00002
NM_014014.5(SNRNP200):c.*337G>A rs886056454 0.00002
NM_014014.5(SNRNP200):c.2879C>T (p.Ala960Val) rs138686895 0.00002
NM_014014.5(SNRNP200):c.5346G>A (p.Ser1782=) rs756239767 0.00002
NM_014014.5(SNRNP200):c.5665G>A (p.Val1889Ile) rs200367764 0.00002
NM_014014.5(SNRNP200):c.574+12C>T rs761734438 0.00002
NM_014014.5(SNRNP200):c.5943T>C (p.Ser1981=) rs754294342 0.00002
NM_014014.5(SNRNP200):c.6174+4C>T rs774620973 0.00002
NM_014014.5(SNRNP200):c.93C>T (p.Thr31=) rs886056468 0.00002
NM_014014.5(SNRNP200):c.*209T>C rs886056456 0.00001
NM_014014.5(SNRNP200):c.*257C>G rs560814451 0.00001
NM_014014.5(SNRNP200):c.1148G>A (p.Arg383His) rs536493402 0.00001
NM_014014.5(SNRNP200):c.1783A>G (p.Ile595Val) rs761336347 0.00001
NM_014014.5(SNRNP200):c.1996C>T (p.Arg666Cys) rs200546584 0.00001
NM_014014.5(SNRNP200):c.2268A>G (p.Ser756=) rs370694903 0.00001
NM_014014.5(SNRNP200):c.2340T>C (p.Tyr780=) rs1158989221 0.00001
NM_014014.5(SNRNP200):c.2542G>A (p.Asp848Asn) rs757811344 0.00001
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His) rs1490753612 0.00001
NM_014014.5(SNRNP200):c.2822A>G (p.Asp941Gly) rs372777445 0.00001
NM_014014.5(SNRNP200):c.3269G>A (p.Arg1090Gln) rs397514574 0.00001
NM_014014.5(SNRNP200):c.3462C>T (p.Tyr1154=) rs148570522 0.00001
NM_014014.5(SNRNP200):c.3744C>T (p.Asp1248=) rs750593383 0.00001
NM_014014.5(SNRNP200):c.3956G>A (p.Ser1319Asn) rs768075127 0.00001
NM_014014.5(SNRNP200):c.4042G>A (p.Val1348Met) rs2063837543 0.00001
NM_014014.5(SNRNP200):c.4080A>T (p.Ala1360=) rs547112938 0.00001
NM_014014.5(SNRNP200):c.4764-6G>A rs767349827 0.00001
NM_014014.5(SNRNP200):c.4796C>T (p.Pro1599Leu) rs762545526 0.00001
NM_014014.5(SNRNP200):c.4818C>T (p.Asp1606=) rs573289061 0.00001
NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=) rs1428606912 0.00001
NM_014014.5(SNRNP200):c.5336G>A (p.Arg1779His) rs749546665 0.00001
NM_014014.5(SNRNP200):c.5412C>T (p.Ile1804=) rs142524062 0.00001
NM_014014.5(SNRNP200):c.557A>G (p.Lys186Arg) rs767984565 0.00001
NM_014014.5(SNRNP200):c.597C>T (p.Tyr199=) rs771467362 0.00001
NM_014014.5(SNRNP200):c.6025C>T (p.Arg2009Cys) rs745836206 0.00001
NM_014014.5(SNRNP200):c.6092+3G>A rs751502439 0.00001
NM_014014.5(SNRNP200):c.6291A>G (p.Pro2097=) rs886056457 0.00001
NM_014014.5(SNRNP200):c.737C>T (p.Ala246Val) rs762289712 0.00001
NM_014014.5(SNRNP200):c.781C>A (p.Arg261=) rs746654808 0.00001
NM_014014.5(SNRNP200):c.841G>A (p.Val281Met) rs866936431 0.00001
NM_014014.5(SNRNP200):c.1118G>A (p.Arg373Gln)
NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=)
NM_014014.5(SNRNP200):c.1249dup (p.Thr417fs)
NM_014014.5(SNRNP200):c.1376A>T (p.Glu459Val)
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) rs933842186
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe) rs771467567
NM_014014.5(SNRNP200):c.1498C>T (p.Leu500=) rs886056464
NM_014014.5(SNRNP200):c.1507G>A (p.Ala503Thr) rs2104357129
NM_014014.5(SNRNP200):c.1515+11C>A rs780821025
NM_014014.5(SNRNP200):c.1516G>T (p.Gly506Cys) rs1487962974
NM_014014.5(SNRNP200):c.1520C>T (p.Ala507Val)
NM_014014.5(SNRNP200):c.1616T>A (p.Ile539Asn) rs2104356680
NM_014014.5(SNRNP200):c.1625C>T (p.Ala542Val) rs2063918440
NM_014014.5(SNRNP200):c.162C>T (p.Asp54=) rs2063976140
NM_014014.5(SNRNP200):c.1634G>A (p.Arg545His) rs2063918355
NM_014014.5(SNRNP200):c.1673G>A (p.Arg558His)
NM_014014.5(SNRNP200):c.1693A>G (p.Thr565Ala) rs2063912153
NM_014014.5(SNRNP200):c.1703A>G (p.Glu568Gly)
NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp) rs2104355428
NM_014014.5(SNRNP200):c.1733A>C (p.Glu578Ala) rs2063911985
NM_014014.5(SNRNP200):c.1775A>C (p.Lys592Thr) rs2063911705
NM_014014.5(SNRNP200):c.1786A>G (p.Ile596Val) rs1471564053
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.1951C>T (p.Leu651Phe) rs2104352435
NM_014014.5(SNRNP200):c.1981G>A (p.Val661Ile)
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu) rs527236113
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014014.5(SNRNP200):c.2047G>T (p.Val683Leu) rs527236114
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014014.5(SNRNP200):c.210-5A>G rs745775178
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_014014.5(SNRNP200):c.2222T>C (p.Met741Thr) rs886056463
NM_014014.5(SNRNP200):c.2262G>A (p.Glu754=)
NM_014014.5(SNRNP200):c.2277A>G (p.Thr759=)
NM_014014.5(SNRNP200):c.2359G>A (p.Ala787Thr) rs2063883437
NM_014014.5(SNRNP200):c.2438C>T (p.Ala813Val) rs1470798497
NM_014014.5(SNRNP200):c.2443C>G (p.Leu815Val)
NM_014014.5(SNRNP200):c.2517G>A (p.Gly839=) rs2063879249
NM_014014.5(SNRNP200):c.2549T>C (p.Leu850Pro) rs2063879043
NM_014014.5(SNRNP200):c.2593G>A (p.Gly865Ser) rs786205529
NM_014014.5(SNRNP200):c.2638C>G (p.Leu880Val) rs1558768038
NM_014014.5(SNRNP200):c.2653C>G (p.Gln885Glu) rs397514575
NM_014014.5(SNRNP200):c.2769C>G (p.Ala923=)
NM_014014.5(SNRNP200):c.2800A>C (p.Thr934Pro)
NM_014014.5(SNRNP200):c.2839C>G (p.Pro947Ala) rs886056462
NM_014014.5(SNRNP200):c.294G>A (p.Val98=)
NM_014014.5(SNRNP200):c.3175-8C>G rs2063866129
NM_014014.5(SNRNP200):c.3258+12G>A rs886056461
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014014.5(SNRNP200):c.3269G>T (p.Arg1090Leu) rs397514574
NM_014014.5(SNRNP200):c.3322A>G (p.Thr1108Ala)
NM_014014.5(SNRNP200):c.338A>G (p.Tyr113Cys) rs2063964181
NM_014014.5(SNRNP200):c.3454C>T (p.Arg1152Cys)
NM_014014.5(SNRNP200):c.3632A>G (p.Asp1211Gly) rs886056460
NM_014014.5(SNRNP200):c.3688A>G (p.Ser1230Gly) rs372772120
NM_014014.5(SNRNP200):c.382-13T>C rs759075763
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp) rs1004264460
NM_014014.5(SNRNP200):c.3888C>A (p.Pro1296=) rs143175658
NM_014014.5(SNRNP200):c.3888C>G (p.Pro1296=) rs143175658
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014014.5(SNRNP200):c.4036G>A (p.Val1346Met) rs779054512
NM_014014.5(SNRNP200):c.4072A>G (p.Ile1358Val)
NM_014014.5(SNRNP200):c.4157C>T (p.Ala1386Val)
NM_014014.5(SNRNP200):c.4354G>A (p.Val1452Met) rs2063829024
NM_014014.5(SNRNP200):c.4424G>A (p.Arg1475His) rs886056459
NM_014014.5(SNRNP200):c.4487A>G (p.Asn1496Ser)
NM_014014.5(SNRNP200):c.4708C>T (p.Arg1570Cys) rs201501591
NM_014014.5(SNRNP200):c.4786G>A (p.Asp1596Asn) rs762326859
NM_014014.5(SNRNP200):c.4839G>C (p.Leu1613=) rs2063817340
NM_014014.5(SNRNP200):c.5491C>G (p.Leu1831Val) rs1684704019
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser) rs1295558388
NM_014014.5(SNRNP200):c.574+10C>A rs368132966
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val) rs1574001405
NM_014014.5(SNRNP200):c.5914A>C (p.Lys1972Gln)
NM_014014.5(SNRNP200):c.5918G>A (p.Arg1973His)
NM_014014.5(SNRNP200):c.5933G>T (p.Gly1978Val)
NM_014014.5(SNRNP200):c.5983G>A (p.Ala1995Thr) rs201691299
NM_014014.5(SNRNP200):c.6026G>A (p.Arg2009His)
NM_014014.5(SNRNP200):c.6037C>T (p.Arg2013Cys) rs935757494
NM_014014.5(SNRNP200):c.6203T>A (p.Ile2068Asn) rs886056458
NM_014014.5(SNRNP200):c.6216G>A (p.Lys2072=)
NM_014014.5(SNRNP200):c.629A>G (p.Glu210Gly) rs995570532
NM_014014.5(SNRNP200):c.631-4A>T rs886056467
NM_014014.5(SNRNP200):c.709C>T (p.Arg237Cys)
NM_014014.5(SNRNP200):c.723G>A (p.Ser241=) rs2276647
NM_014014.5(SNRNP200):c.728A>G (p.Asn243Ser)
NM_014014.5(SNRNP200):c.732C>T (p.Leu244=) rs199688602
NM_014014.5(SNRNP200):c.808C>A (p.Arg270=) rs886056466
NM_014014.5(SNRNP200):c.972C>T (p.His324=) rs886056465

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