ClinVar Miner

List of variants in gene PRPF31 studied for Retinitis pigmentosa

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Gene type:
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Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.-9+14= rs4806711 0.17623
NM_015629.4(PRPF31):c.735C>T (p.Pro245=) rs11556769 0.08507
NM_015629.4(PRPF31):c.1467C>T (p.Val489=) rs62144168 0.08162
NM_015629.4(PRPF31):c.564G>A (p.Glu188=) rs1058572 0.02280
NM_015629.4(PRPF31):c.239-13C>T rs113691122 0.02250
NM_015629.4(PRPF31):c.1230A>G (p.Thr410=) rs34154455 0.01460
NM_015629.4(PRPF31):c.1302A>G (p.Val434=) rs35230170 0.01449
NM_015629.4(PRPF31):c.*19G>A rs116685547 0.01038
NM_015629.4(PRPF31):c.1416G>A (p.Val472=) rs145958840 0.00763
NM_015629.4(PRPF31):c.420+7G>A rs143717956 0.00723
NM_015629.4(PRPF31):c.*154C>T rs141548037 0.00218
NM_015629.4(PRPF31):c.-9+3G>A rs762066202 0.00058
NM_015629.4(PRPF31):c.*151C>A rs587650588 0.00025
NM_015629.4(PRPF31):c.239-12G>A rs377086372 0.00025
NM_015629.4(PRPF31):c.697+10C>T rs369722854 0.00019
NM_015629.4(PRPF31):c.1074-6C>A rs587594853 0.00017
NM_015629.4(PRPF31):c.429C>T (p.Gly143=) rs142604510 0.00016
NM_015629.4(PRPF31):c.*197G>C rs886054620 0.00013
NM_015629.4(PRPF31):c.1320C>T (p.Thr440=) rs117456605 0.00012
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00011
NM_015629.4(PRPF31):c.510C>T (p.Thr170=) rs145699524 0.00011
NM_015629.4(PRPF31):c.-21G>T rs373430109 0.00010
NM_015629.4(PRPF31):c.1206G>A (p.Ser402=) rs147663541 0.00009
NM_015629.4(PRPF31):c.1239C>T (p.Asn413=) rs371720691 0.00008
NM_015629.4(PRPF31):c.594C>T (p.Asn198=) rs138269127 0.00008
NM_015629.4(PRPF31):c.855+14G>A rs370512426 0.00008
NM_015629.4(PRPF31):c.177+4A>T rs368136864 0.00007
NM_015629.4(PRPF31):c.*190T>C rs770812141 0.00006
NM_015629.4(PRPF31):c.1297G>A (p.Val433Ile) rs201906830 0.00006
NM_015629.4(PRPF31):c.420+11A>G rs371910233 0.00006
NM_015629.4(PRPF31):c.-32A>C rs886054617 0.00004
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094 0.00003
NM_015629.4(PRPF31):c.177+7G>A rs886054618 0.00003
NM_015629.4(PRPF31):c.557G>A (p.Arg186Gln) rs776437225 0.00003
NM_015629.4(PRPF31):c.*9G>A rs369008153 0.00002
NM_015629.4(PRPF31):c.107A>G (p.Gln36Arg) rs781412138 0.00002
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile) rs373578680 0.00002
NM_015629.4(PRPF31):c.855+12G>A rs763372742 0.00002
NM_015629.4(PRPF31):c.*46G>A rs368621219 0.00001
NM_015629.4(PRPF31):c.207G>A (p.Glu69=) rs886054619 0.00001
NM_015629.4(PRPF31):c.421-9C>T rs201443830 0.00001
NM_015629.4(PRPF31):c.504C>T (p.Ser168=) rs1281473715 0.00001
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser) rs1480395880 0.00001
NM_015629.4(PRPF31):c.921T>C (p.Ser307=) rs368242197 0.00001
NM_015629.4(PRPF31):c.976C>T (p.Arg326Cys) rs1180860515 0.00001
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
NM_015629.3:c.(?_-1)_(*1_?)del
NM_015629.3:c.(?_-1)_(238+1_239-1)del
NM_015629.4(PRPF31):c.*152G>A rs62144169
NM_015629.4(PRPF31):c.*152G>T rs62144169
NM_015629.4(PRPF31):c.*63G>T rs2074046762
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1095del (p.Leu366fs) rs2146445593
NM_015629.4(PRPF31):c.1108G>T (p.Glu370Ter) rs1184467860
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs) rs2073970897
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) rs1555794302
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter) rs2073971805
NM_015629.4(PRPF31):c.1147-153_1196del rs1555794509
NM_015629.4(PRPF31):c.1147-5C>G rs587757028
NM_015629.4(PRPF31):c.1147-9= rs655240
NM_015629.4(PRPF31):c.1147-9C>G rs655240
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.1190dup (p.His398fs) rs1600360338
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) rs367896277
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) rs1600360654
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) rs1600360827
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter) rs1439576531
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) rs2073704298
NM_015629.4(PRPF31):c.178-2A>G rs2073708638
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) rs1555791188
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.245_246del (p.Gly82fs) rs2073798559
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.322+1G>A rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs) rs1600337158
NM_015629.4(PRPF31):c.33C>T (p.Leu11=) rs760236177
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) rs2073818085
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) rs1555792445
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) rs2073843843
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs) rs2146420485
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) rs1411470197
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) rs527236094
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter) rs764232082
NM_015629.4(PRPF31):c.582G>A (p.Ala194=) rs757374570
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.652_655dup (p.Leu219fs) rs2516145103
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) rs1600341902
NM_015629.4(PRPF31):c.673del (p.Ala225fs) rs1600341931
NM_015629.4(PRPF31):c.689del (p.Lys230fs) rs1600342032
NM_015629.4(PRPF31):c.697+1G>A rs1600342050
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) rs2073701307
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) rs527236095
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr) rs2073875700
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) rs1555793207
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.856-1G>A rs1600350656
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs) rs1600324442
NM_015629.4(PRPF31):c.945+4A>G rs2073928552
NM_015629.4(PRPF31):c.950del (p.Gly317fs) rs886041773
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer) rs2073962058
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs) rs2073962186
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) rs1600355373
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) rs2073702243
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205
NM_015629.4(PRPF31):c.997del (p.Glu333fs) rs1600355502
Single allele

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