ClinVar Miner

List of variants in gene AP4B1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_001253852.3(AP4B1):c.576C>T (p.Gly192=) rs17464525 0.16017
NM_001253852.3(AP4B1):c.402A>C (p.Ser134=) rs34751342 0.03013
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val) rs145182838 0.00445
NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val) rs114734921 0.00406
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436 0.00163
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_001253852.3(AP4B1):c.898G>T (p.Val300Leu) rs111785152 0.00118
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser) rs552888524 0.00053
NM_001253852.3(AP4B1):c.151A>C (p.Met51Leu) rs183034705 0.00051
NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=) rs34778731 0.00051
NM_001253852.3(AP4B1):c.570A>G (p.Glu190=) rs139775124 0.00050
NM_001253852.3(AP4B1):c.967T>A (p.Ser323Thr) rs149335605 0.00049
NM_001253852.3(AP4B1):c.803A>G (p.His268Arg) rs201047107 0.00037
NM_001253852.3(AP4B1):c.912G>A (p.Leu304=) rs146053295 0.00037
NM_001253852.3(AP4B1):c.389G>A (p.Arg130Gln) rs147043117 0.00036
NM_001253852.3(AP4B1):c.2004C>T (p.Thr668=) rs143354033 0.00031
NM_001253852.3(AP4B1):c.1244G>A (p.Cys415Tyr) rs200590674 0.00028
NM_001253852.3(AP4B1):c.968C>T (p.Ser323Leu) rs142732858 0.00020
NM_001253852.3(AP4B1):c.373A>G (p.Ile125Val) rs143769705 0.00014
NM_001253852.3(AP4B1):c.1042G>A (p.Val348Met) rs150622512 0.00011
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001253852.3(AP4B1):c.1865C>T (p.Pro622Leu) rs767679115 0.00008
NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp) rs752781534 0.00007
NM_001253852.3(AP4B1):c.358T>A (p.Tyr120Asn) rs138880168 0.00005
NM_001253852.3(AP4B1):c.1071G>A (p.Thr357=) rs373289645 0.00004
NM_001253852.3(AP4B1):c.1178G>A (p.Arg393Gln) rs753638648 0.00004
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_001253852.3(AP4B1):c.1559G>A (p.Arg520His) rs763842373 0.00004
NM_001253852.3(AP4B1):c.172G>C (p.Ala58Pro) rs754770476 0.00004
NM_001253852.3(AP4B1):c.1859T>C (p.Leu620Pro) rs569988158 0.00004
NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro) rs149478319 0.00004
NM_001253852.3(AP4B1):c.267G>A (p.Thr89=) rs779754710 0.00004
NM_001253852.3(AP4B1):c.683G>A (p.Arg228His) rs773497515 0.00004
NM_001253852.3(AP4B1):c.1082C>T (p.Ala361Val) rs143389123 0.00003
NM_001253852.3(AP4B1):c.1217G>A (p.Arg406Gln) rs145803736 0.00003
NM_001253852.3(AP4B1):c.1643C>T (p.Pro548Leu) rs149723440 0.00003
NM_001253852.3(AP4B1):c.175A>G (p.Thr59Ala) rs151293980 0.00003
NM_001253852.3(AP4B1):c.675C>T (p.Tyr225=) rs932607065 0.00003
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001253852.3(AP4B1):c.1535G>A (p.Arg512Gln) rs754458814 0.00002
NM_001253852.3(AP4B1):c.2007C>T (p.Ile669=) rs146869083 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr) rs1043676103 0.00001
NM_001253852.3(AP4B1):c.2011A>G (p.Met671Val) rs1362886937 0.00001
NM_001253852.3(AP4B1):c.2145A>T (p.Ala715=) rs969793953 0.00001
NM_001253852.3(AP4B1):c.594C>T (p.Pro198=) rs766215887 0.00001
NM_001253852.3(AP4B1):c.868C>T (p.Arg290Cys) rs370455247 0.00001
NM_001253852.3(AP4B1):c.914A>G (p.His305Arg) rs750420913 0.00001
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1249G>A (p.Glu417Lys)
NM_001253852.3(AP4B1):c.1318A>C (p.Ile440Leu)
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg) rs748049847
NM_001253852.3(AP4B1):c.1388A>T (p.Asn463Ile) rs1558080714
NM_001253852.3(AP4B1):c.145G>T (p.Val49Phe)
NM_001253852.3(AP4B1):c.1490G>A (p.Arg497His)
NM_001253852.3(AP4B1):c.1571T>C (p.Val524Ala)
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=) rs1558079074
NM_001253852.3(AP4B1):c.1624C>T (p.Leu542Phe)
NM_001253852.3(AP4B1):c.1630C>T (p.Leu544Phe)
NM_001253852.3(AP4B1):c.1634T>C (p.Leu545Ser)
NM_001253852.3(AP4B1):c.1686A>G (p.Thr562=)
NM_001253852.3(AP4B1):c.1720A>C (p.Thr574Pro)
NM_001253852.3(AP4B1):c.1823G>A (p.Arg608Lys)
NM_001253852.3(AP4B1):c.1922C>A (p.Ala641Asp)
NM_001253852.3(AP4B1):c.1930C>G (p.Gln644Glu)
NM_001253852.3(AP4B1):c.1945C>T (p.Arg649Trp)
NM_001253852.3(AP4B1):c.1951G>A (p.Glu651Lys)
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn) rs374241047
NM_001253852.3(AP4B1):c.2013G>A (p.Met671Ile) rs1558076799
NM_001253852.3(AP4B1):c.2079C>A (p.Phe693Leu)
NM_001253852.3(AP4B1):c.2165G>C (p.Ser722Thr) rs1558076040
NM_001253852.3(AP4B1):c.216G>A (p.Met72Ile) rs1558095932
NM_001253852.3(AP4B1):c.297A>G (p.Pro99=)
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val) rs752682155
NM_001253852.3(AP4B1):c.299T>C (p.Met100Thr)
NM_001253852.3(AP4B1):c.350T>C (p.Val117Ala)
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.410G>A (p.Arg137Lys)
NM_001253852.3(AP4B1):c.443A>C (p.His148Pro)
NM_001253852.3(AP4B1):c.470-2A>C
NM_001253852.3(AP4B1):c.470-6T>G
NM_001253852.3(AP4B1):c.476C>T (p.Ala159Val)
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
NM_001253852.3(AP4B1):c.586A>C (p.Asn196His)
NM_001253852.3(AP4B1):c.724A>C (p.Ser242Arg)
NM_001253852.3(AP4B1):c.778C>A (p.Leu260Met)
NM_001253852.3(AP4B1):c.820C>T (p.Leu274Phe)
NM_001253852.3(AP4B1):c.834G>A (p.Lys278=)
NM_001253852.3(AP4B1):c.844C>T (p.Leu282=)
NM_001253852.3(AP4B1):c.856T>G (p.Ser286Ala)
NM_001253852.3(AP4B1):c.902G>A (p.Arg301His)
NM_001253852.3(AP4B1):c.933T>C (p.Phe311=)
NM_001253852.3(AP4B1):c.952T>A (p.Phe318Ile)

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.