ClinVar Miner

List of variants in gene FAM161A studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
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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.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.*311A>C rs62148138 0.16764
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.-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.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.*1368A>C rs148352743 0.00098
NM_001201543.2(FAM161A):c.*196A>C rs545909945 0.00092
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.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.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.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.*795G>A rs866844878 0.00008
NM_001201543.2(FAM161A):c.598A>G (p.Asn200Asp) rs372038495 0.00008
NM_001201543.2(FAM161A):c.*523G>A rs897022105 0.00007
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.686G>A (p.Arg229Gln) rs746372822 0.00006
NM_001201543.2(FAM161A):c.704C>A (p.Thr235Lys) rs199759978 0.00006
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.1628G>A (p.Arg543Gln) rs374748539 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.1459C>T (p.Arg487Cys) rs780565318 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.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.924G>A (p.Arg308=) rs1017182965 0.00004
NM_001201543.2(FAM161A):c.*752A>G rs886056217 0.00003
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.*1252A>G rs1015093278 0.00002
NM_001201543.2(FAM161A):c.*1507G>C rs886056213 0.00002
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.1583+11A>G rs368458156 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.*68G>A rs765002648 0.00001
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.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.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.2016A>C (p.Glu672Asp) rs368402244 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.746A>G (p.Gln249Arg) rs192864749 0.00001
NM_001201543.2(FAM161A):c.775A>G (p.Lys259Glu) rs1227350190 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.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.1138C>T (p.Arg380Ter)
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.1238A>C (p.Glu413Ala) rs748095219
NM_001201543.2(FAM161A):c.1245dup (p.Val416fs)
NM_001201543.2(FAM161A):c.1250dup (p.Leu418fs)
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.1368A>G (p.Pro456=) rs1558483269
NM_001201543.2(FAM161A):c.1401T>G (p.Ile467Met) rs1290409340
NM_001201543.2(FAM161A):c.1403_1407del (p.Lys468fs)
NM_001201543.2(FAM161A):c.1408G>C (p.Glu470Gln) rs554664966
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
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.1490C>G (p.Ser497Ter) rs2105080547
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.1583+2T>A
NM_001201543.2(FAM161A):c.1584-2A>G rs777319845
NM_001201543.2(FAM161A):c.1610T>A (p.Leu537Ter)
NM_001201543.2(FAM161A):c.1642C>T (p.Gln548Ter)
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.1751G>A (p.Arg584Lys) rs1572875669
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.1841G>A (p.Arg614Lys) rs886056218
NM_001201543.2(FAM161A):c.1849C>T (p.Gln617Ter) rs2105073672
NM_001201543.2(FAM161A):c.1852-2A>T rs1672402787
NM_001201543.2(FAM161A):c.1882del (p.Tyr628fs)
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.2T>C (p.Met1Thr) rs1673593434
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) rs756780634
NM_001201543.2(FAM161A):c.336del (p.Lys112fs) rs1281095503
NM_001201543.2(FAM161A):c.346del (p.Met116fs)
NM_001201543.2(FAM161A):c.356del (p.Asp119fs)
NM_001201543.2(FAM161A):c.368del (p.His122_Leu123insTer) rs2105086630
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
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.423-1G>T
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp) rs202022070
NM_001201543.2(FAM161A):c.449del (p.His150fs)
NM_001201543.2(FAM161A):c.458C>A (p.Ser153Ter)
NM_001201543.2(FAM161A):c.493C>T (p.Gln165Ter)
NM_001201543.2(FAM161A):c.496dup (p.Ser166fs)
NM_001201543.2(FAM161A):c.513_514del (p.Ser172fs)
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.678_681del (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.688_700dup (p.Pro234fs)
NM_001201543.2(FAM161A):c.691G>T (p.Glu231Ter)
NM_001201543.2(FAM161A):c.695G>A (p.Trp232Ter)
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) rs531709417
NM_001201543.2(FAM161A):c.747_748del (p.Lys250fs)
NM_001201543.2(FAM161A):c.758_759del (p.Glu253fs)
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_001201543.2(FAM161A):c.943A>T (p.Lys315Ter) rs1572879569
NM_001201543.2(FAM161A):c.961del (p.Ser321fs)
NM_001201543.2(FAM161A):c.981del (p.Phe327fs)
NM_001201543.2(FAM161A):c.997C>T (p.Gln333Ter)
NM_032180.2(FAM161A):c.-81A>T rs1234376053

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