ClinVar Miner

List of variants studied for Retinitis pigmentosa 54

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.2112T>C (p.Asn704=) rs10200693 0.30236
NM_001029883.3(PCARE):c.1452C>T (p.Ser484=) rs13385188 0.29962
NM_001029883.3(PCARE):c.*27G>A rs10182566 0.28227
NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met) rs10166913 0.16186
NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val) rs17744093 0.15871
NM_001029883.3(PCARE):c.60G>A (p.Gln20=) rs35929540 0.15707
NM_001029883.3(PCARE):c.2499G>A (p.Pro833=) rs34253433 0.15556
NM_001029883.3(PCARE):c.258G>A (p.Arg86=) rs62132765 0.15123
NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys) rs114057537 0.03342
NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp) rs77003681 0.01424
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp) rs140776870 0.01391
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=) rs188815175 0.00296
NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu) rs182248363 0.00192
NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr) rs192350796 0.00140
NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys) rs80151896 0.00051
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln) rs201772623 0.00011
NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser) rs201980758 0.00010
NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter) rs777103184 0.00001
NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter) rs772325487 0.00001
NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter) rs748396645 0.00001
NM_001029883.3(PCARE):c.958del (p.Arg320fs) rs1558490060 0.00001
NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter) rs1572829010
NM_001029883.3(PCARE):c.1229del (p.Gln410fs) rs1667521303
NM_001029883.3(PCARE):c.1541del (p.Pro514fs) rs1667513233
NM_001029883.3(PCARE):c.1545dup (p.Ser516fs) rs1553354826
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter) rs2148416171
NM_001029883.3(PCARE):c.1663del (p.Val555fs) rs2148416150
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter) rs1238711555
NM_001029883.3(PCARE):c.1984dup (p.Thr662fs) rs1667504255
NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001029883.3(PCARE):c.2415del (p.Pro807fs) rs1412522034
NM_001029883.3(PCARE):c.2424del (p.Pro809fs) rs2148415628
NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter) rs1667483876
NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs) rs794728002
NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser) rs2148415249
NM_001029883.3(PCARE):c.2967del (p.Val990fs) rs1667476173
NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter) rs367658438
NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)
NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg) rs796065322
NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del) rs138020654
NM_001029883.3(PCARE):c.3668+2T>C rs1667454188
NM_001029883.3(PCARE):c.3673_3675dupAGC
NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter) rs267606691
NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe) rs267606690
NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter) rs2148416762
NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr) rs1420546201
NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter) rs1397537890
NM_001029883.3(PCARE):c.938_946dup (p.Arg315_Asn316insThrLysArg)
NM_001029883.3(PCARE):c.947del (p.Asn316fs) rs779886453

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.