ClinVar Miner

List of variants in gene FAM161A studied for Retinitis pigmentosa

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Total variants: 95
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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.*300T>C rs6748320 0.37525
NM_001201543.2(FAM161A):c.*1210T>C rs3736598 0.37515
NM_001201543.2(FAM161A):c.706A>G (p.Ile236Val) rs17513722 0.17102
NM_001201543.2(FAM161A):c.*311A>C rs62148138 0.16764
NM_001201543.2(FAM161A):c.321A>G (p.Ile107Met) rs11125895 0.16195
NM_001201543.2(FAM161A):c.-16C>G rs184556352 0.01315
NM_001201543.2(FAM161A):c.1655T>G (p.Met552Arg) rs76112350 0.01067
NM_001201543.2(FAM161A):c.*1549G>T rs7563900 0.01065
NM_001201543.2(FAM161A):c.*1100T>C rs78512710 0.00922
NM_001201543.2(FAM161A):c.423-7C>T rs144455077 0.00755
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) rs76110744 0.00702
NM_001201543.2(FAM161A):c.*26C>T rs61743113 0.00648
NM_001201543.2(FAM161A):c.*617G>A rs188862164 0.00644
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387 0.00644
NM_001201543.2(FAM161A):c.817G>A (p.Glu273Lys) rs6733774 0.00570
NM_001201543.2(FAM161A):c.2122G>A (p.Glu708Lys) rs77562614 0.00538
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.*1129A>C rs76144251 0.00370
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968 0.00277
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.*196A>C rs545909945 0.00108
NM_001201543.2(FAM161A):c.*1368A>C rs148352743 0.00098
NM_001201543.2(FAM161A):c.*1136G>T rs191936453 0.00084
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003 0.00042
NM_001201543.2(FAM161A):c.982A>G (p.Ile328Val) rs192680593 0.00034
NM_001201543.2(FAM161A):c.*83G>T rs750644248 0.00033
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_001201543.2(FAM161A):c.*1551A>C rs181814580 0.00022
NM_001201543.2(FAM161A):c.*802A>G rs541819550 0.00019
NM_001201543.2(FAM161A):c.717G>A (p.Pro239=) rs377016856 0.00018
NM_001201543.2(FAM161A):c.*1144T>G rs532671656 0.00016
NM_001201543.2(FAM161A):c.1270G>A (p.Val424Ile) rs377666612 0.00014
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg) rs201315315 0.00014
NM_001201543.2(FAM161A):c.2065G>T (p.Asp689Tyr) rs191862300 0.00014
NM_001201543.2(FAM161A):c.*757G>A rs560037933 0.00013
NM_001201543.2(FAM161A):c.494A>G (p.Gln165Arg) rs201088869 0.00013
NM_001201543.2(FAM161A):c.*755G>A rs933044250 0.00011
NM_001201543.2(FAM161A):c.*1223A>G rs886056215 0.00010
NM_001201543.2(FAM161A):c.1085G>T (p.Arg362Leu) rs200813667 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.916C>T (p.Arg306Trp) rs183615774 0.00009
NM_001201543.2(FAM161A):c.*795G>A rs866844878 0.00008
NM_001201543.2(FAM161A):c.*523G>A rs897022105 0.00007
NM_001201543.2(FAM161A):c.*1432T>C rs558710194 0.00005
NM_001201543.2(FAM161A):c.1583+13G>A rs200160715 0.00005
NM_001201543.2(FAM161A):c.*1299T>C rs529941143 0.00004
NM_001201543.2(FAM161A):c.*1345G>A rs765343041 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001201543.2(FAM161A):c.1357G>C (p.Val453Leu) rs973178862 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001201543.2(FAM161A):c.1554A>G (p.Val518=) rs752639878 0.00004
NM_001201543.2(FAM161A):c.924G>A (p.Arg308=) rs1017182965 0.00004
NM_001201543.2(FAM161A):c.*752A>G rs886056217 0.00003
NM_001201543.2(FAM161A):c.*1252A>G rs1015093278 0.00002
NM_001201543.2(FAM161A):c.*1507G>C rs886056213 0.00002
NM_001201543.2(FAM161A):c.1213G>A (p.Gly405Arg) rs544107644 0.00002
NM_001201543.2(FAM161A):c.1583+11A>G rs368458156 0.00002
NM_001201543.2(FAM161A):c.*68G>A rs765002648 0.00001
NM_001201543.2(FAM161A):c.1018A>G (p.Lys340Glu) rs569307291 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.1462T>G (p.Trp488Gly) rs767214705 0.00001
NM_001201543.2(FAM161A):c.2016A>C (p.Glu672Asp) rs368402244 0.00001
NM_001201543.2(FAM161A):c.746A>G (p.Gln249Arg) rs192864749 0.00001
NM_001201543.2(FAM161A):c.*1349A>G rs886056214
NM_001201543.2(FAM161A):c.*44G>A rs745524377
NM_001201543.2(FAM161A):c.*44G>C rs745524377
NM_001201543.2(FAM161A):c.*519C>A rs535265888
NM_001201543.2(FAM161A):c.*525G>T rs1672343350
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.1212T>G (p.Cys404Trp) rs4672457
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1368A>G (p.Pro456=) rs1558483269
NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln) rs554664966
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
NM_001201543.2(FAM161A):c.1567C>T (p.Arg523Ter) rs202193201
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) rs1572875669
NM_001201543.2(FAM161A):c.1841G>A (p.Arg614Lys) rs886056218
NM_001201543.2(FAM161A):c.1971T>G (p.Asn657Lys) rs867264184
NM_001201543.2(FAM161A):c.2121AGA[1] (p.Glu709del) rs558080743
NM_001201543.2(FAM161A):c.2T>C (p.Met1Thr) rs1673593434
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp) rs202022070
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.782del (p.Asp261fs) rs1178184685
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln) rs1166920376
NM_032180.2(FAM161A):c.-81A>T rs1234376053

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