ClinVar Miner

List of variants studied for Retinitis pigmentosa 28

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 152
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032180.2(FAM161A):c.-41T>C rs1881616 0.98184
NM_001201543.2(FAM161A):c.1212T>C (p.Cys404=) rs4672457 0.98181
NM_001201543.2(FAM161A):c.165T>G (p.Ala55=) rs4270331 0.98177
NM_001201543.2(FAM161A):c.184-33G>A rs11125896 0.20547
NM_001201543.2(FAM161A):c.1584-11G>A rs17513666 0.17214
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_001201543.2(FAM161A):c.1665G>A (p.Leu555=) rs6545910 0.10308
NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) rs6733774 0.00570
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_001201543.2(FAM161A):c.1551G>A (p.Thr517=) rs143622468 0.00248
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_001201543.2(FAM161A):c.1989C>T (p.Val663=) rs201362403 0.00131
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) rs192680593 0.00034
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001201543.2(FAM161A):c.2011A>G (p.Asn671Asp) rs370603613 0.00016
NM_001201543.2(FAM161A):c.1061G>A (p.Arg354Gln) rs369115510 0.00015
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) rs377666612 0.00014
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) rs201088869 0.00013
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) rs200813667 0.00010
NM_001201543.2(FAM161A):c.1602G>A (p.Lys534=) rs367777806 0.00010
NM_001201543.2(FAM161A):c.1851+4G>A rs375048963 0.00010
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209 0.00010
NM_001201543.2(FAM161A):c.1044T>C (p.Tyr348=) rs549784796 0.00009
NM_001201543.2(FAM161A):c.1668G>C (p.Gln556His) rs201109013 0.00009
NM_001201543.2(FAM161A):c.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp) rs372038495 0.00008
NM_001201543.2(FAM161A):c.1219A>G (p.Arg407Gly) rs576715893 0.00007
NM_001201543.2(FAM161A):c.720G>A (p.Glu240=) rs750749446 0.00007
NM_001201543.2(FAM161A):c.86A>G (p.Gln29Arg) rs763794474 0.00007
NM_001201543.2(FAM161A):c.686G>A (p.Arg229Gln) rs746372822 0.00006
NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys) rs199759978 0.00006
NM_001201543.2(FAM161A):c.1628G>A (p.Arg543Gln) rs374748539 0.00005
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys) rs780565318 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001201543.2(FAM161A):c.1759G>A (p.Glu587Lys) rs868226745 0.00004
NM_001201543.2(FAM161A):c.1979C>T (p.Thr660Met) rs372371486 0.00004
NM_001201543.2(FAM161A):c.228G>A (p.Pro76=) rs776173729 0.00004
NM_001201543.2(FAM161A):c.423-5T>C rs530372842 0.00004
NM_001201543.2(FAM161A):c.1441G>A (p.Glu481Lys) rs727503924 0.00003
NM_001201543.2(FAM161A):c.1787G>A (p.Arg596Gln) rs201467049 0.00003
NM_001201543.2(FAM161A):c.1966A>G (p.Asn656Asp) rs773989386 0.00003
NM_001201543.2(FAM161A):c.1004G>A (p.Arg335Gln) rs755314585 0.00002
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) rs544107644 0.00002
NM_001201543.2(FAM161A):c.122C>T (p.Ala41Val) rs768878474 0.00002
NM_001201543.2(FAM161A):c.1946_1947del (p.Gly649fs) rs773858764 0.00002
NM_001201543.2(FAM161A):c.277G>T (p.Glu93Ter) rs531265943 0.00002
NM_001201543.2(FAM161A):c.716C>T (p.Pro239Leu) rs1438804249 0.00002
NM_001201543.2(FAM161A):c.867A>G (p.Ala289=) rs558087162 0.00002
NM_001201543.2(FAM161A):c.972A>T (p.Pro324=) rs769306395 0.00002
NM_001201543.2(FAM161A):c.1012C>T (p.Arg338Trp) rs1382874045 0.00001
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) rs569307291 0.00001
NM_001201543.2(FAM161A):c.1060C>T (p.Arg354Ter) rs769445913 0.00001
NM_001201543.2(FAM161A):c.1064T>G (p.Phe355Cys) rs1236579870 0.00001
NM_001201543.2(FAM161A):c.1111G>T (p.Asp371Tyr) rs752075492 0.00001
NM_001201543.2(FAM161A):c.1136A>G (p.Tyr379Cys) rs775782170 0.00001
NM_001201543.2(FAM161A):c.1321dup (p.His441fs) rs1316281505 0.00001
NM_001201543.2(FAM161A):c.1328C>T (p.Ser443Leu) rs189711603 0.00001
NM_001201543.2(FAM161A):c.1356A>G (p.Thr452=) rs760376720 0.00001
NM_001201543.2(FAM161A):c.1462T>G (p.Trp488Gly) rs767214705 0.00001
NM_001201543.2(FAM161A):c.1473G>A (p.Leu491=) rs551187535 0.00001
NM_001201543.2(FAM161A):c.1483C>T (p.Arg495Cys) rs759263986 0.00001
NM_001201543.2(FAM161A):c.1576G>A (p.Ala526Thr) rs768632779 0.00001
NM_001201543.2(FAM161A):c.1684C>T (p.Arg562Trp) rs758751186 0.00001
NM_001201543.2(FAM161A):c.171C>T (p.Pro57=) rs764002326 0.00001
NM_001201543.2(FAM161A):c.1786C>T (p.Arg596Ter) rs267606793 0.00001
NM_001201543.2(FAM161A):c.1804G>A (p.Glu602Lys) rs769359884 0.00001
NM_001201543.2(FAM161A):c.1821G>C (p.Lys607Asn) rs777678039 0.00001
NM_001201543.2(FAM161A):c.182C>T (p.Ser61Leu) rs374779101 0.00001
NM_001201543.2(FAM161A):c.1907G>A (p.Gly636Glu) rs188276373 0.00001
NM_001201543.2(FAM161A):c.1967A>T (p.Asn656Ile) rs770123645 0.00001
NM_001201543.2(FAM161A):c.1968_1969insTGA (p.Asn657Ter) rs770515598 0.00001
NM_001201543.2(FAM161A):c.246T>C (p.Phe82=) rs777320853 0.00001
NM_001201543.2(FAM161A):c.252C>T (p.Asn84=) rs561697683 0.00001
NM_001201543.2(FAM161A):c.337T>C (p.Leu113=) rs757443871 0.00001
NM_001201543.2(FAM161A):c.422+3A>T rs373374401 0.00001
NM_001201543.2(FAM161A):c.590A>G (p.Glu197Gly) rs763593903 0.00001
NM_001201543.2(FAM161A):c.678G>A (p.Arg226=) rs1442927125 0.00001
NM_001201543.2(FAM161A):c.685C>T (p.Arg229Ter) rs267606794 0.00001
NM_001201543.2(FAM161A):c.698T>C (p.Val233Ala) rs553732379 0.00001
NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu) rs1227350190 0.00001
NM_001201543.2(FAM161A):c.1015G>T (p.Glu339Ter)
NM_001201543.2(FAM161A):c.1044T>A (p.Tyr348Ter)
NM_001201543.2(FAM161A):c.1057_1058del (p.Asn353fs)
NM_001201543.2(FAM161A):c.1093del (p.Tyr365fs)
NM_001201543.2(FAM161A):c.1095T>G (p.Tyr365Ter) rs1253790930
NM_001201543.2(FAM161A):c.1097G>T (p.Gly366Val) rs1386308138
NM_001201543.2(FAM161A):c.1109del (p.Asn370fs)
NM_001201543.2(FAM161A):c.110_116dup (p.Ala40fs)
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.1238A>C (p.Glu413Ala) rs748095219
NM_001201543.2(FAM161A):c.1245dup (p.Val416fs)
NM_001201543.2(FAM161A):c.125_128delinsGGG (p.Ala42fs)
NM_001201543.2(FAM161A):c.1336_1337del (p.Lys446fs)
NM_001201543.2(FAM161A):c.1352dup (p.Leu451fs) rs2105080977
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met) rs1290409340
NM_001201543.2(FAM161A):c.1403_1407del (p.Lys468fs)
NM_001201543.2(FAM161A):c.142del (p.Asp48fs)
NM_001201543.2(FAM161A):c.1464G>A (p.Trp488Ter) rs761440783
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.148GAG[2] (p.Glu52del) rs528451151
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001201543.2(FAM161A):c.149A>G (p.Glu50Gly) rs1673585446
NM_001201543.2(FAM161A):c.1525_1530delinsCCCG (p.Cys509fs)
NM_001201543.2(FAM161A):c.1550_1554del (p.Thr517fs)
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu) rs372121322
NM_001201543.2(FAM161A):c.1584-2A>G rs777319845
NM_001201543.2(FAM161A):c.1610T>A (p.Leu537Ter)
NM_001201543.2(FAM161A):c.1651A>T (p.Arg551Ter)
NM_001201543.2(FAM161A):c.1666C>T (p.Gln556Ter) rs186972495
NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly) rs1672859918
NM_001201543.2(FAM161A):c.1702_1703del (p.Ser568fs) rs928348793
NM_001201543.2(FAM161A):c.1800_1801insTGA (p.Arg601Ter)
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) rs372597586
NM_001201543.2(FAM161A):c.1822_1823del (p.Arg608fs) rs2105073741
NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter) rs2105073672
NM_001201543.2(FAM161A):c.1852-2A>T rs1672402787
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) rs867264184
NM_001201543.2(FAM161A):c.2006+1G>A
NM_001201543.2(FAM161A):c.2032G>T (p.Glu678Ter)
NM_001201543.2(FAM161A):c.2080G>C (p.Asp694His) rs1672373216
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) rs558080743
NM_001201543.2(FAM161A):c.287del (p.Phe96fs)
NM_001201543.2(FAM161A):c.294del (p.Lys98_Val99insTer) rs762087385
NM_001201543.2(FAM161A):c.299_300del (p.Glu100fs) rs776996002
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) rs756780634
NM_001201543.2(FAM161A):c.336del (p.Lys112fs) rs1281095503
NM_001201543.2(FAM161A):c.356del (p.Asp119fs)
NM_001201543.2(FAM161A):c.368del (p.His122_Leu123insTer) rs2105086630
NM_001201543.2(FAM161A):c.379C>T (p.Gln127Ter) rs1673040470
NM_001201543.2(FAM161A):c.404del (p.Ser135fs)
NM_001201543.2(FAM161A):c.421del (p.Arg141fs)
NM_001201543.2(FAM161A):c.449del (p.His150fs)
NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)
NM_001201543.2(FAM161A):c.516C>G (p.Ser172=) rs767300885
NM_001201543.2(FAM161A):c.534del (p.Leu178fs)
NM_001201543.2(FAM161A):c.556_560del (p.Pro186fs)
NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val) rs1672974919
NM_001201543.2(FAM161A):c.688_700dup (p.Pro234fs)
NM_001201543.2(FAM161A):c.695G>A (p.Trp232Ter)
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter) rs2105111295
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) rs531709417
NM_001201543.2(FAM161A):c.82G>A (p.Ala28Thr) rs550422472
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001201543.2(FAM161A):c.943A>T (p.Lys315Ter) rs1572879569
NM_001201543.2(FAM161A):c.981del (p.Phe327fs)
NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)

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.