ClinVar Miner

List of variants in gene PRPF31 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.194T>A (p.Met65Lys) rs145505952 0.00044
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_015629.4(PRPF31):c.*197G>C rs886054620 0.00013
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln) rs201806410 0.00012
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00011
NM_015629.4(PRPF31):c.595G>A (p.Ala199Thr) rs142874574 0.00011
NM_015629.4(PRPF31):c.1374+9C>T rs727504108 0.00009
NM_015629.4(PRPF31):c.271C>T (p.Arg91Cys) rs376072327 0.00009
NM_015629.4(PRPF31):c.935C>T (p.Thr312Ile) rs144322132 0.00008
NM_015629.4(PRPF31):c.1114C>T (p.Arg372Trp) rs373249122 0.00007
NM_015629.4(PRPF31):c.574G>A (p.Asp192Asn) rs751651077 0.00007
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile) rs201906830 0.00006
NM_015629.4(PRPF31):c.392A>G (p.Asn131Ser) rs770719374 0.00006
NM_015629.4(PRPF31):c.251T>C (p.Val84Ala) rs369049017 0.00005
NM_015629.4(PRPF31):c.670G>A (p.Gly224Arg) rs750619000 0.00004
NM_015629.4(PRPF31):c.736G>A (p.Ala246Thr) rs1186135759 0.00004
NM_015629.4(PRPF31):c.789G>A (p.Ser263=) rs760581700 0.00004
NM_015629.4(PRPF31):c.1325G>A (p.Arg442His) rs774748387 0.00003
NM_015629.4(PRPF31):c.182C>G (p.Ala61Gly) rs140412357 0.00003
NM_015629.4(PRPF31):c.274G>A (p.Val92Ile) rs776730311 0.00003
NM_015629.4(PRPF31):c.528G>A (p.Gly176=) rs368977441 0.00003
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln) rs776437225 0.00003
NM_015629.4(PRPF31):c.866G>A (p.Arg289Gln) rs587678197 0.00003
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg) rs781412138 0.00002
NM_015629.4(PRPF31):c.113A>C (p.Glu38Ala) rs746256474 0.00002
NM_015629.4(PRPF31):c.1268C>T (p.Thr423Met) rs753277924 0.00002
NM_015629.4(PRPF31):c.1480A>G (p.Ser494Gly) rs1286625081 0.00002
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile) rs373578680 0.00002
NM_015629.4(PRPF31):c.247C>G (p.Pro83Ala) rs747554145 0.00002
NM_015629.4(PRPF31):c.260C>T (p.Ala87Val) rs768486884 0.00002
NM_015629.4(PRPF31):c.417C>A (p.Val139=) rs1253042816 0.00002
NM_015629.4(PRPF31):c.607C>T (p.Arg203Cys) rs373212857 0.00002
NM_015629.4(PRPF31):c.767G>A (p.Arg256His) rs372827141 0.00002
NM_015629.4(PRPF31):c.889G>A (p.Ala297Thr) rs762463081 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015629.4(PRPF31):c.1034C>T (p.Ala345Val) rs766301461 0.00001
NM_015629.4(PRPF31):c.1069C>T (p.Arg357Cys) rs794727002 0.00001
NM_015629.4(PRPF31):c.1115G>A (p.Arg372Gln) rs1472231888 0.00001
NM_015629.4(PRPF31):c.1130G>A (p.Arg377His) rs756479054 0.00001
NM_015629.4(PRPF31):c.1132A>T (p.Met378Leu) rs754394723 0.00001
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=) rs1411083098 0.00001
NM_015629.4(PRPF31):c.1205C>T (p.Ser402Leu) rs1406386099 0.00001
NM_015629.4(PRPF31):c.1217G>A (p.Arg406His) rs760999883 0.00001
NM_015629.4(PRPF31):c.1223G>A (p.Arg408Gln) rs1459114247 0.00001
NM_015629.4(PRPF31):c.1243G>A (p.Ala415Thr) rs1222805069 0.00001
NM_015629.4(PRPF31):c.1256G>A (p.Arg419Lys) rs1198570358 0.00001
NM_015629.4(PRPF31):c.1304A>G (p.Tyr435Cys) rs1318607765 0.00001
NM_015629.4(PRPF31):c.1337C>T (p.Ser446Leu) rs759253733 0.00001
NM_015629.4(PRPF31):c.1374+5C>T rs746073339 0.00001
NM_015629.4(PRPF31):c.1385T>C (p.Ile462Thr) rs2074042764 0.00001
NM_015629.4(PRPF31):c.1450G>A (p.Ala484Thr) rs970673640 0.00001
NM_015629.4(PRPF31):c.1471G>A (p.Gly491Ser) rs779212742 0.00001
NM_015629.4(PRPF31):c.209A>G (p.Tyr70Cys) rs141463671 0.00001
NM_015629.4(PRPF31):c.220C>G (p.Gln74Glu) rs1389305246 0.00001
NM_015629.4(PRPF31):c.272G>A (p.Arg91His) rs759141690 0.00001
NM_015629.4(PRPF31):c.280G>A (p.Val94Met) rs1216526173 0.00001
NM_015629.4(PRPF31):c.323-3T>C rs758108676 0.00001
NM_015629.4(PRPF31):c.373C>G (p.Leu125Val) rs376246791 0.00001
NM_015629.4(PRPF31):c.505G>A (p.Val169Ile) rs150280707 0.00001
NM_015629.4(PRPF31):c.528-3C>T rs1259701342 0.00001
NM_015629.4(PRPF31):c.556C>T (p.Arg186Trp) rs770546023 0.00001
NM_015629.4(PRPF31):c.562G>C (p.Glu188Gln) rs527236094 0.00001
NM_015629.4(PRPF31):c.583C>G (p.Leu195Val) rs1252030145 0.00001
NM_015629.4(PRPF31):c.664A>G (p.Ile222Val) rs761762752 0.00001
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser) rs1480395880 0.00001
NM_015629.4(PRPF31):c.718A>C (p.Asn240His) rs1271698442 0.00001
NM_015629.4(PRPF31):c.773C>T (p.Thr258Met) rs2073874603 0.00001
NM_015629.4(PRPF31):c.779C>T (p.Ser260Leu) rs1434025015 0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) rs1374316824 0.00001
NM_015629.4(PRPF31):c.838G>A (p.Val280Met) rs770976679 0.00001
NM_015629.4(PRPF31):c.855G>A (p.Pro285=) rs149447109 0.00001
NM_015629.4(PRPF31):c.856G>C (p.Asp286His) rs1366556247 0.00001
NM_015629.4(PRPF31):c.863G>A (p.Arg288Gln) rs756193579 0.00001
NM_015629.4(PRPF31):c.865C>T (p.Arg289Trp) rs780317796 0.00001
NM_015629.4(PRPF31):c.870A>T (p.Lys290Asn) rs769060905 0.00001
NM_015629.4(PRPF31):c.911G>A (p.Arg304His) rs756068990 0.00001
NM_015629.4(PRPF31):c.928G>A (p.Glu310Lys) rs778039940 0.00001
NM_015629.4(PRPF31):c.943A>G (p.Lys315Glu) rs1466225729 0.00001
NM_015629.4(PRPF31):c.956A>T (p.Glu319Val) rs1218417233 0.00001
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys) rs1180860515 0.00001
NC_000019.9:g.(?_54631428)_(54631772_?)dup
NM_015629.4(PRPF31):c.*4_*7del rs1568603369
NM_015629.4(PRPF31):c.1001C>T (p.Pro334Leu)
NM_015629.4(PRPF31):c.1004C>T (p.Pro335Leu) rs1415051331
NM_015629.4(PRPF31):c.1061G>T (p.Arg354Leu) rs1249002937
NM_015629.4(PRPF31):c.1074G>C (p.Arg358Ser) rs2073969543
NM_015629.4(PRPF31):c.1075_1134dup (p.Met378_Ser379insTyrArgLysMetLysGluArgLeuGlyLeuThrGluIleArgLysGlnAlaAsnArgMet)
NM_015629.4(PRPF31):c.1080_1094del (p.Lys361_Arg365del)
NM_015629.4(PRPF31):c.1107_1124del (p.Glu370_Ala375del) rs1600356799
NM_015629.4(PRPF31):c.1120C>A (p.Gln374Lys) rs869312187
NM_015629.4(PRPF31):c.1123G>C (p.Ala375Pro) rs1370041345
NM_015629.4(PRPF31):c.1124C>G (p.Ala375Gly) rs1353795698
NM_015629.4(PRPF31):c.1129C>G (p.Arg377Gly) rs2073971306
NM_015629.4(PRPF31):c.1130G>T (p.Arg377Leu) rs756479054
NM_015629.4(PRPF31):c.1140C>G (p.Phe380Leu) rs1411083098
NM_015629.4(PRPF31):c.1146+5_1146+6del rs2146446040
NM_015629.4(PRPF31):c.1146G>T (p.Glu382Asp) rs2146445996
NM_015629.4(PRPF31):c.1149C>A (p.Ile383=) rs750245767
NM_015629.4(PRPF31):c.1186C>G (p.Leu396Val) rs1360236310
NM_015629.4(PRPF31):c.1202A>G (p.Lys401Arg)
NM_015629.4(PRPF31):c.1216C>G (p.Arg406Gly) rs200636980
NM_015629.4(PRPF31):c.121C>G (p.Leu41Val) rs878853332
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) rs367896277
NM_015629.4(PRPF31):c.1235T>C (p.Val412Ala) rs2146450292
NM_015629.4(PRPF31):c.1275+6G>A rs1444917497
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) rs1600360827
NM_015629.4(PRPF31):c.1295G>A (p.Ser432Asn) rs2073998651
NM_015629.4(PRPF31):c.1318dup (p.Thr440fs) rs2516208488
NM_015629.4(PRPF31):c.1358C>A (p.Ala453Asp) rs151337240
NM_015629.4(PRPF31):c.136G>A (p.Asp46Asn) rs2146393039
NM_015629.4(PRPF31):c.1373_1374+40del rs2516209081
NM_015629.4(PRPF31):c.1410G>T (p.Lys470Asn) rs1600368220
NM_015629.4(PRPF31):c.1430_1431delinsCA (p.Gln477Pro) rs2146457996
NM_015629.4(PRPF31):c.1433A>G (p.Lys478Arg) rs2516223561
NM_015629.4(PRPF31):c.1451C>G (p.Ala484Gly) rs981971618
NM_015629.4(PRPF31):c.1499G>T (p.Ter500Leu)
NM_015629.4(PRPF31):c.177+3_177+17del rs2516081199
NM_015629.4(PRPF31):c.188T>C (p.Ile63Thr) rs2146393989
NM_015629.4(PRPF31):c.217A>G (p.Lys73Glu)
NM_015629.4(PRPF31):c.224C>A (p.Ala75Asp) rs1334884325
NM_015629.4(PRPF31):c.239-3C>G rs1426681224
NM_015629.4(PRPF31):c.239-6_239-3del rs1600334890
NM_015629.4(PRPF31):c.241A>G (p.Met81Val)
NM_015629.4(PRPF31):c.274G>T (p.Val92Phe) rs776730311
NM_015629.4(PRPF31):c.301G>A (p.Val101Met)
NM_015629.4(PRPF31):c.321G>A (p.Leu107=) rs2516117715
NM_015629.4(PRPF31):c.325A>G (p.Ile109Val) rs1600337134
NM_015629.4(PRPF31):c.332A>G (p.His111Arg) rs1555792404
NM_015629.4(PRPF31):c.389C>T (p.Pro130Leu) rs2516126863
NM_015629.4(PRPF31):c.409C>T (p.Arg137Cys) rs763083738
NM_015629.4(PRPF31):c.413C>G (p.Thr138Arg) rs2073819035
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) rs1555792445
NM_015629.4(PRPF31):c.442A>G (p.Lys148Glu) rs2146418658
NM_015629.4(PRPF31):c.463C>G (p.Leu155Val) rs1372880764
NM_015629.4(PRPF31):c.479C>G (p.Thr160Ser) rs2516138538
NM_015629.4(PRPF31):c.508A>G (p.Thr170Ala)
NM_015629.4(PRPF31):c.511G>A (p.Ala171Thr) rs1246773978
NM_015629.4(PRPF31):c.526G>A (p.Gly176Arg) rs1470235353
NM_015629.4(PRPF31):c.527+2dup rs2516139302
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015629.4(PRPF31):c.529C>G (p.Gln177Glu) rs2146420461
NM_015629.4(PRPF31):c.548_580dup (p.Met193_Ala194insGluLeuGluArgLeuGluGluAlaCysAspMet) rs2516142966
NM_015629.4(PRPF31):c.550_552del (p.Leu184del) rs2073851643
NM_015629.4(PRPF31):c.554A>T (p.Glu185Val) rs2073851814
NM_015629.4(PRPF31):c.557G>T (p.Arg186Leu) rs776437225
NM_015629.4(PRPF31):c.55G>A (p.Glu19Lys)
NM_015629.4(PRPF31):c.563AGG[1] (p.Glu189del) rs2146420765
NM_015629.4(PRPF31):c.584T>C (p.Leu195Pro)
NM_015629.4(PRPF31):c.5C>G (p.Ser2Cys) rs2516078026
NM_015629.4(PRPF31):c.614_615delinsTT (p.Tyr205Phe) rs2516144384
NM_015629.4(PRPF31):c.634A>G (p.Met212Val) rs1555792899
NM_015629.4(PRPF31):c.644T>C (p.Ile215Thr) rs2516144952
NM_015629.4(PRPF31):c.652A>G (p.Asn218Asp) rs2516145144
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) rs2146421585
NM_015629.4(PRPF31):c.682GCC[1] (p.Ala229del) rs2073856361
NM_015629.4(PRPF31):c.704C>G (p.Ala235Gly) rs2516155318
NM_015629.4(PRPF31):c.70G>A (p.Gly24Arg)
NM_015629.4(PRPF31):c.713T>C (p.Leu238Pro) rs2516155610
NM_015629.4(PRPF31):c.716C>T (p.Thr239Ile) rs2073872372
NM_015629.4(PRPF31):c.724T>C (p.Ser242Pro) rs753164653
NM_015629.4(PRPF31):c.745A>G (p.Ile249Val)
NM_015629.4(PRPF31):c.748A>G (p.Met250Val)
NM_015629.4(PRPF31):c.752T>C (p.Leu251Pro) rs2073873787
NM_015629.4(PRPF31):c.757G>C (p.Gly253Arg) rs2073873973
NM_015629.4(PRPF31):c.760G>T (p.Ala254Ser) rs753397075
NM_015629.4(PRPF31):c.788C>T (p.Ser263Leu) rs2516157808
NM_015629.4(PRPF31):c.805C>G (p.Pro269Ala) rs1234645773
NM_015629.4(PRPF31):c.815G>T (p.Gly272Val) rs1555793203
NM_015629.4(PRPF31):c.821T>A (p.Ile274Asn) rs2073875700
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr) rs2073875700
NM_015629.4(PRPF31):c.821T>G (p.Ile274Ser) rs2073875700
NM_015629.4(PRPF31):c.829A>C (p.Ser277Arg) rs1236203220
NM_015629.4(PRPF31):c.82G>A (p.Glu28Lys) rs2516079079
NM_015629.4(PRPF31):c.832G>A (p.Asp278Asn) rs2516158676
NM_015629.4(PRPF31):c.836T>G (p.Ile279Ser) rs2146425977
NM_015629.4(PRPF31):c.855+5G>C rs2146426154
NM_015629.4(PRPF31):c.856-3C>G rs2073925383
NM_015629.4(PRPF31):c.856-7G>T rs2073925197
NM_015629.4(PRPF31):c.871G>C (p.Ala291Pro) rs2516176968
NM_015629.4(PRPF31):c.877C>T (p.Arg293Trp) rs1230858435
NM_015629.4(PRPF31):c.878G>A (p.Arg293Gln) rs773721834
NM_015629.4(PRPF31):c.886GCC[1] (p.Ala297del) rs2146436571
NM_015629.4(PRPF31):c.887C>A (p.Ala296Asp)
NM_015629.4(PRPF31):c.88C>T (p.Pro30Ser)
NM_015629.4(PRPF31):c.902T>C (p.Leu301Pro) rs2146436688
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) rs2073927586
NM_015629.4(PRPF31):c.913_921del (p.Val305_Ser307del)
NM_015629.4(PRPF31):c.917A>C (p.Asp306Ala) rs2146436830
NM_015629.4(PRPF31):c.917A>G (p.Asp306Gly) rs2146436830
NM_015629.4(PRPF31):c.923T>G (p.Phe308Cys) rs587728623
NM_015629.4(PRPF31):c.945+19G>C rs2146437135
NM_015629.4(PRPF31):c.946-12C>A rs372556278
NM_015629.4(PRPF31):c.946G>C (p.Val316Leu) rs2146443706
NM_015629.4(PRPF31):c.949G>A (p.Gly317Ser) rs1600355311
NM_015629.4(PRPF31):c.958C>A (p.Leu320Met) rs1450669410
NM_015629.4(PRPF31):c.967G>A (p.Glu323Lys) rs878853335
NM_015629.4(PRPF31):c.971T>A (p.Ile324Asn) rs2146443864
NM_015629.4(PRPF31):c.985G>A (p.Asp329Asn) rs2146443961

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