ClinVar Miner

List of variants in gene PRPF31 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 147
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094 0.00003
NC_000019.9:g.(?_54621004)_(54625231_?)del
NC_000019.9:g.(?_54621659)_(54622033_?)del
NC_000019.9:g.(?_54621659)_(54628055_?)del
NC_000019.9:g.(?_54621659)_(54630012_?)del
NC_000019.9:g.(?_54621659)_(54632765_?)del
NC_000019.9:g.(?_54622530)_(54626860_?)del
NC_000019.9:g.(?_54625219)_(54628055_?)del
NC_000019.9:g.(?_54625219)_(54630012_?)del
NC_000019.9:g.(?_54625219)_(54632765_?)del
NC_000019.9:g.(?_54625718)_(54627260_?)del
NC_000019.9:g.(?_54625743)_(54626193_?)del
NC_000019.9:g.(?_54625856)_(54628055_?)del
NC_000019.9:g.(?_54626515)_(54627192_?)del
NC_000019.9:g.(?_54626813)_(54634863_?)del
NC_000019.9:g.(?_54627858)_(54628055_?)del
NC_000019.9:g.(?_54629883)_(54630012_?)del
NC_000019.9:g.(?_54631428)_(54632765_?)del
NC_000019.9:g.(?_54631428)_(54634863_?)del
NM_015629.4(PRPF31):c.1040del (p.Leu347fs) rs2073964314
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1067del (p.Gly356fs) rs2146444340
NM_015629.4(PRPF31):c.1073+1G>A rs794727001
NM_015629.4(PRPF31):c.1074-1G>A rs1343138103
NM_015629.4(PRPF31):c.1074-1G>T rs1343138103
NM_015629.4(PRPF31):c.1074-2A>T rs1314226094
NM_015629.4(PRPF31):c.1084del (p.Lys361_Met362insTer) rs2073970078
NM_015629.4(PRPF31):c.1107_1144dup (p.Glu382delinsGlyArgSerGlySerArgProThrValTer)
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) rs1184467860
NM_015629.4(PRPF31):c.1110_1117dup (p.Lys373fs) rs1600356790
NM_015629.4(PRPF31):c.1118_1143del (p.Lys373fs) rs2146445734
NM_015629.4(PRPF31):c.1118del (p.Lys373fs)
NM_015629.4(PRPF31):c.1118dup (p.Gln374fs) rs2146445759
NM_015629.4(PRPF31):c.1120C>T (p.Gln374Ter) rs869312187
NM_015629.4(PRPF31):c.1121_1137del (p.Gln374fs) rs2146445800
NM_015629.4(PRPF31):c.1126_1129dup (p.Arg377fs) rs2146445865
NM_015629.4(PRPF31):c.1146+2T>C rs2073971890
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1147-1G>A rs2146449768
NM_015629.4(PRPF31):c.1147-1G>T rs2146449768
NM_015629.4(PRPF31):c.1147-2A>G rs2146449761
NM_015629.4(PRPF31):c.1148del (p.Ile383fs) rs2516204990
NM_015629.4(PRPF31):c.1153G>T (p.Glu385Ter) rs2146449804
NM_015629.4(PRPF31):c.1154_1157dup (p.Asp386fs) rs2516205141
NM_015629.4(PRPF31):c.1156_1295del140insCCCAGATCGCAGCCTCCCTGCAGAAGCAGAGCGTCTTGGAGATCCTGGCCTTGGTGGCCTCGTTTACCTGTGTCTGCCGCACACGCCCACTGCCCGACTTGCCCAGGTGGCCCAGGCTGAATCCCAGGTCCTCCTGGTAGGCGTCCTCCT (p.Asp386_Ser432delinsProArgSerGlnProProCysArgSerArgAlaSerTrpArgSerTrpProTrpTrpProArgLeuProValSerAlaAlaHisAlaHisCysProThrCysProGlyGlyProGlyTer)
NM_015629.4(PRPF31):c.1164C>A (p.Tyr388Ter) rs2516205278
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.118C>T (p.Gln40Ter) rs2516079854
NM_015629.4(PRPF31):c.1193del (p.His398fs) rs2146449983
NM_015629.4(PRPF31):c.1201A>T (p.Lys401Ter) rs2146450050
NM_015629.4(PRPF31):c.1205C>A (p.Ser402Ter) rs1406386099
NM_015629.4(PRPF31):c.1212_1227del (p.Ser404fs)
NM_015629.4(PRPF31):c.1212del (p.Ser404fs) rs2146450184
NM_015629.4(PRPF31):c.1225C>T (p.Gln409Ter) rs2516206256
NM_015629.4(PRPF31):c.1231del (p.Gln411fs) rs2516206372
NM_015629.4(PRPF31):c.1263dup (p.Lys422fs) rs2516206637
NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter) rs727504107
NM_015629.4(PRPF31):c.1289dup (p.Gln431fs) rs2516208014
NM_015629.4(PRPF31):c.1291C>T (p.Gln431Ter) rs1568600184
NM_015629.4(PRPF31):c.1374+654C>G rs587776591
NM_015629.4(PRPF31):c.152_158del (p.Ile51fs) rs2146393119
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.177+1del rs2146393282
NM_015629.4(PRPF31):c.178-1G>A rs2146393934
NM_015629.4(PRPF31):c.178-2A>G rs2073708638
NM_015629.4(PRPF31):c.195del (p.Met65fs) rs2073709089
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter) rs2073709795
NM_015629.4(PRPF31):c.218dup (p.Gln74fs) rs2516084081
NM_015629.4(PRPF31):c.220C>T (p.Gln74Ter) rs1389305246
NM_015629.4(PRPF31):c.221_224dup (p.Lys76fs) rs2516083955
NM_015629.4(PRPF31):c.238+1G>A rs779270349
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.23T>G (p.Leu8Ter) rs2146392573
NM_015629.4(PRPF31):c.244G>T (p.Gly82Ter) rs2146409388
NM_015629.4(PRPF31):c.256_268del (p.Ala86fs) rs2146409471
NM_015629.4(PRPF31):c.259_263del (p.Ala86_Ala87insTer) rs2516116135
NM_015629.4(PRPF31):c.264_276dup (p.Ile93Ter) rs2516116438
NM_015629.4(PRPF31):c.2T>A (p.Met1Lys) rs2146392500
NM_015629.4(PRPF31):c.317del (p.Glu106fs) rs2146409888
NM_015629.4(PRPF31):c.322+2T>G rs2516117809
NM_015629.4(PRPF31):c.322+4_322+7del rs2073801044
NM_015629.4(PRPF31):c.323-1G>C rs2146413215
NM_015629.4(PRPF31):c.323-2A>G rs2146413207
NM_015629.4(PRPF31):c.325ATC[1] (p.Ile110del)
NM_015629.4(PRPF31):c.330_333del (p.His111fs) rs2073817463
NM_015629.4(PRPF31):c.343del (p.Arg115fs) rs2146413305
NM_015629.4(PRPF31):c.349A>T (p.Lys117Ter) rs2146413337
NM_015629.4(PRPF31):c.351dup (p.Tyr118fs) rs2516126445
NM_015629.4(PRPF31):c.358_359del (p.Lys120fs) rs1555792415
NM_015629.4(PRPF31):c.359dup (p.Arg121fs) rs1555792415
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) rs2073818085
NM_015629.4(PRPF31):c.390del (p.Asn131fs) rs2146413440
NM_015629.4(PRPF31):c.395del (p.Ala132fs) rs2073818439
NM_015629.4(PRPF31):c.3G>C (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.415del (p.Val139fs) rs2146413624
NM_015629.4(PRPF31):c.421-1G>A rs2146418544
NM_015629.4(PRPF31):c.421-1G>T rs2146418544
NM_015629.4(PRPF31):c.421-2A>C rs1600340117
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.445dup (p.Cys149fs) rs2146418683
NM_015629.4(PRPF31):c.455del (p.Asn152fs) rs2146418714
NM_015629.4(PRPF31):c.466C>T (p.Gln156Ter) rs2073842959
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+1G>A rs1057517982
NM_015629.4(PRPF31):c.527+1G>T rs1057517982
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015629.4(PRPF31):c.528-1G>A rs2146420442
NM_015629.4(PRPF31):c.528-39_531del rs2146420160
NM_015629.4(PRPF31):c.529C>T (p.Gln177Ter) rs2146420461
NM_015629.4(PRPF31):c.52G>T (p.Glu18Ter) rs201265631
NM_015629.4(PRPF31):c.549_553del (p.Leu184fs) rs2146420616
NM_015629.4(PRPF31):c.553G>T (p.Glu185Ter)
NM_015629.4(PRPF31):c.565G>T (p.Glu189Ter) rs2146420831
NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.616G>T (p.Glu206Ter) rs2146421194
NM_015629.4(PRPF31):c.636del (p.Met212fs) rs2073855020
NM_015629.4(PRPF31):c.639del (p.Phe214fs) rs2146421348
NM_015629.4(PRPF31):c.674del (p.Ala225fs) rs2516145631
NM_015629.4(PRPF31):c.698-1G>A rs2073871791
NM_015629.4(PRPF31):c.698-1G>T rs2073871791
NM_015629.4(PRPF31):c.698-2A>G
NM_015629.4(PRPF31):c.749dup (p.Met250fs) rs2516156843
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_015629.4(PRPF31):c.758_767del (p.Gly253fs) rs1555793170
NM_015629.4(PRPF31):c.763C>T (p.Gln255Ter)
NM_015629.4(PRPF31):c.795del (p.Ser266fs) rs2516157956
NM_015629.4(PRPF31):c.797C>A (p.Ser266Ter) rs2146425748
NM_015629.4(PRPF31):c.7_8del (p.Leu3fs) rs2516077994
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.825C>A (p.Tyr275Ter) rs2516158518
NM_015629.4(PRPF31):c.828_829del (p.His276fs) rs2146425937
NM_015629.4(PRPF31):c.829_845del (p.Ser277fs)
NM_015629.4(PRPF31):c.855+1G>A rs1057520752
NM_015629.4(PRPF31):c.855+5G>A rs2146426154
NM_015629.4(PRPF31):c.856-2A>G rs2146436261
NM_015629.4(PRPF31):c.866_879del (p.Arg289fs) rs2146436400
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.901_919del (p.Leu301fs) rs2516177530
NM_015629.4(PRPF31):c.91dup (p.Ala31fs)
NM_015629.4(PRPF31):c.923dup (p.His309fs) rs2146436884
NM_015629.4(PRPF31):c.946-1G>C rs2073961882
NM_015629.4(PRPF31):c.950del (p.Gly317fs) rs886041773
NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter) rs1555794201
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205

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