ClinVar Miner

List of variants in gene FAM161A reported as uncertain significance for retinal disorder

Included ClinVar conditions (500):
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Gene type:
ClinVar version:
Total variants: 125
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HGVS dbSNP gnomAD frequency
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.*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.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.*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.*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.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.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.1357G>C (p.Val453Leu) rs973178862 0.00004
NM_001201543.2(FAM161A):c.1459C>T (p.Arg487Cys) rs780565318 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.423-5T>C rs530372842 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.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.1064T>G (p.Phe355Cys) rs1236579870 0.00001
NM_001201543.2(FAM161A):c.1095T>C (p.Tyr365=) rs1253790930 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.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.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.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.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.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.1097G>T (p.Gly366Val) rs1386308138
NM_001201543.2(FAM161A):c.1197T>C (p.Pro399=)
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.1248A>G (p.Val416=) rs2105081186
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.1408G>C (p.Glu470Gln) rs554664966
NM_001201543.2(FAM161A):c.1484G>A (p.Arg495His) rs201998260
NM_001201543.2(FAM161A):c.1579G>T (p.Val527Leu) rs372121322
NM_001201543.2(FAM161A):c.1688C>G (p.Ala563Gly) rs1672859918
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) rs372597586
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.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.2T>C (p.Met1Thr) rs1673593434
NM_001201543.2(FAM161A):c.302A>G (p.Glu101Gly) rs756780634
NM_001201543.2(FAM161A):c.435A>C (p.Glu145Asp) rs202022070
NM_001201543.2(FAM161A):c.516C>G (p.Ser172=) rs767300885
NM_001201543.2(FAM161A):c.595A>G (p.Ile199Val) rs1672974919
NM_001201543.2(FAM161A):c.721C>A (p.Pro241Thr) rs531709417
NM_001201543.2(FAM161A):c.721C>T (p.Pro241Ser) rs531709417
NM_001201543.2(FAM161A):c.880C>T (p.Pro294Ser)
NM_001201543.2(FAM161A):c.908A>G (p.Lys303Arg)
NM_001201543.2(FAM161A):c.934G>C (p.Glu312Gln) rs1166920376
NM_032180.2(FAM161A):c.-81A>T rs1234376053

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