List of variants in gene PRPF31 reported as uncertain significance for Retinitis pigmentosa

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 35

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.-9+3G>A	rs762066202	0.00061
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.429C>T (p.Gly143=)	rs142604510	0.00016
NM_015629.4(PRPF31):c.*197G>C	rs886054620	0.00013
NM_015629.4(PRPF31):c.510C>T (p.Thr170=)	rs145699524	0.00011
NM_015629.4(PRPF31):c.855+14G>A	rs370512426	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.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.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.421-9C>T	rs201443830	0.00001
NM_015629.4(PRPF31):c.504C>T (p.Ser168=)	rs1281473715	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_015629.4(PRPF31):c.*152G>T	rs62144169
NM_015629.4(PRPF31):c.*63G>T	rs2074046762
NM_015629.4(PRPF31):c.-32A>C	rs886054617
NM_015629.4(PRPF31):c.1147-5C>G	rs587757028
NM_015629.4(PRPF31):c.1147-9C>G	rs655240
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp)	rs367896277
NM_015629.4(PRPF31):c.207G>A (p.Glu69=)	rs886054619
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.582G>A (p.Ala194=)	rs757374570
NM_015629.4(PRPF31):c.706G>A (p.Gly236Ser)	rs1480395880
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.