ClinVar Miner

List of variants in gene PRPF31 reported as likely pathogenic for PRPF31-related retinopathy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015629.4(PRPF31):c.-9+1G>A rs2146380786
NM_015629.4(PRPF31):c.1074-1G>C
NM_015629.4(PRPF31):c.1110_1117del (p.Ile371fs) rs1600356790
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) rs2146450161
NM_015629.4(PRPF31):c.1276-2del rs2146450721
NM_015629.4(PRPF31):c.136del (p.Asp46fs) rs2146393019
NM_015629.4(PRPF31):c.1374+569C>G rs2146453060
NM_015629.4(PRPF31):c.140C>A (p.Ser47Ter) rs2073703461
NM_015629.4(PRPF31):c.238+1_238+7del rs2146394271
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.239-1G>C
NM_015629.4(PRPF31):c.239-1G>T rs2073798309
NM_015629.4(PRPF31):c.267del (p.Glu89fs) rs2146409568
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) rs2146420554
NM_015629.4(PRPF31):c.549_550insGCCTCCAG (p.Leu184fs)
NM_015629.4(PRPF31):c.633del (p.Met212fs) rs2146421305
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) rs2146392668
NM_015629.4(PRPF31):c.757G>A (p.Gly253Arg) rs2073873973
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.945+2T>G rs2146437002
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205

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.