ClinVar Miner

List of variants in gene PRPF31 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
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.*224_*228dup rs587763567 0.00011
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.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.-113G>C rs17526361
NM_015629.3(PRPF31):c.-127G>A rs587601857
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.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.33C>T (p.Leu11=) rs760236177
NM_015629.4(PRPF31):c.509C>T (p.Thr170Ile) rs2073843843
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015629.4(PRPF31):c.582G>A (p.Ala194=) rs757374570
NM_015629.4(PRPF31):c.945+4A>G rs2073928552

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.