ClinVar Miner

List of variants in gene PRPF8 studied for Retinitis pigmentosa 13

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=) rs118000367 0.01936
NM_006445.4(PRPF8):c.1290-10A>G rs73291009 0.01904
NM_006445.4(PRPF8):c.2873-13T>C rs57276551 0.01890
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=) rs34341522 0.01503
NM_006445.4(PRPF8):c.3299+14T>C rs16951071 0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=) rs35420265 0.01452
NM_006445.4(PRPF8):c.1855-13C>T rs16951135 0.01407
NM_006445.4(PRPF8):c.5469C>T (p.His1823=) rs115404141 0.00600
NM_006445.4(PRPF8):c.4467C>T (p.Leu1489=) rs113849788 0.00488
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=) rs146749363 0.00299
NM_006445.4(PRPF8):c.435-6T>G rs75026252 0.00262
NM_006445.4(PRPF8):c.3447-12C>T rs148435449 0.00138
NM_006445.4(PRPF8):c.4202+19A>G rs1279339161 0.00009
NM_006445.4(PRPF8):c.5794-3C>G rs776617795 0.00006
NM_006445.4(PRPF8):c.690C>T (p.Phe230=) rs200640834 0.00006
NM_006445.4(PRPF8):c.6504C>T (p.Tyr2168=) rs753995574 0.00005
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=) rs373131838 0.00004
NM_006445.4(PRPF8):c.385G>A (p.Val129Ile) rs548682365 0.00003
NM_006445.4(PRPF8):c.654-5C>T rs143954665 0.00003
NM_006445.4(PRPF8):c.1099-8T>C rs200865270 0.00001
NM_006445.4(PRPF8):c.1719+4A>G rs774567975 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
NM_006445.4(PRPF8):c.104G>T (p.Arg35Leu) rs774010147
NM_006445.4(PRPF8):c.1208C>T (p.Ala403Val) rs1912802818
NM_006445.4(PRPF8):c.1684G>A (p.Val562Met) rs777124467
NM_006445.4(PRPF8):c.1985-6dup rs1176602293
NM_006445.4(PRPF8):c.2140A>G (p.Ser714Gly)
NM_006445.4(PRPF8):c.239del (p.Lys80fs) rs1913055670
NM_006445.4(PRPF8):c.3166C>T (p.His1056Tyr)
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.434+18A>C rs72820383
NM_006445.4(PRPF8):c.5377-1G>T rs1911505318
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.603C>T (p.Ala201=) rs148215037
NM_006445.4(PRPF8):c.6062A>T (p.Gln2021Leu)
NM_006445.4(PRPF8):c.6353C>T (p.Ser2118Phe) rs387906971
NM_006445.4(PRPF8):c.6466A>C (p.Thr2156Pro) rs2151109770
NM_006445.4(PRPF8):c.6837G>T (p.Trp2279Cys) rs2151109229
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp) rs1911029601
NM_006445.4(PRPF8):c.6854-4G>A rs75996323
NM_006445.4(PRPF8):c.6901C>A (p.Pro2301Thr) rs121434239
NM_006445.4(PRPF8):c.6902C>T (p.Pro2301Leu) rs2151109012
NM_006445.4(PRPF8):c.6912C>G (p.Phe2304Leu) rs121434240
NM_006445.4(PRPF8):c.6926A>C (p.His2309Pro) rs121434236
NM_006445.4(PRPF8):c.6926A>G (p.His2309Arg) rs121434236
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006445.4(PRPF8):c.6929G>A (p.Arg2310Lys) rs121434238
NM_006445.4(PRPF8):c.6930G>C (p.Arg2310Ser) rs1911001854
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006445.4(PRPF8):c.6978C>G (p.Tyr2326Ter) rs773363890
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys) rs1597223220
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs) rs1597223214
NM_006445.4(PRPF8):c.809A>G (p.Asn270Ser) rs756656471
NM_006445.4(PRPF8):c.914G>T (p.Arg305Leu)
NM_006445.4(PRPF8):c.926G>A (p.Arg309His) rs775023296

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.