ClinVar Miner

List of variants reported as pathogenic for obsolete AP4-related intellectual disability and spastic paraplegia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_004722.4(AP4M1):c.1320dup (p.Arg441fs) rs1437455190 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_001253852.3(AP4B1):c.894T>A (p.Cys298Ter) rs746462207 0.00002
NM_001253852.3(AP4B1):c.1057C>T (p.Arg353Ter) rs138335735 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 0.00001
NM_004722.4(AP4M1):c.10C>T (p.Gln4Ter) rs777220438 0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.1317G>A (p.Trp439Ter) rs772119268 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
GRCh38/hg38 15q21.2(chr15:50923067-50925830)x0
NC_000001.10:g.(?_112318699)_(115576848_?)del
NC_000015.10:g.50755991_50948682del
NM_000039.3(APOA1):c.43+1G>T rs2134233729
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.138+3_138+6del rs876661295
NM_001128126.3(AP4S1):c.365_366delinsAG (p.Cys122Ter)
NM_001253852.3(AP4B1):c.1112_1113insGGAGC (p.Ile371fs)
NM_001253852.3(AP4B1):c.1122_1123insTTGTAGGTGCCAGGACTTCTTTTGTAGGT (p.Ala375delinsLeuTer)
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs) rs2101015147
NM_001253852.3(AP4B1):c.1240C>T (p.Gln414Ter)
NM_001253852.3(AP4B1):c.1317dup (p.Ile440fs)
NM_001253852.3(AP4B1):c.1324_1331del (p.Leu442fs)
NM_001253852.3(AP4B1):c.1365T>A (p.Tyr455Ter) rs114201291
NM_001253852.3(AP4B1):c.1459C>T (p.Arg487Ter) rs771888480
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs) rs1553257236
NM_001253852.3(AP4B1):c.1510+2T>C rs1667449135
NM_001253852.3(AP4B1):c.219C>A (p.Cys73Ter) rs2101044378
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001253852.3(AP4B1):c.352C>T (p.Gln118Ter) rs1013939776
NM_001253852.3(AP4B1):c.388_389dup (p.Asp131fs)
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.444dup (p.Asn149Ter)
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer) rs2101035173
NM_001253852.3(AP4B1):c.52_53del (p.Cys18fs)
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter) rs762612591
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001253852.3(AP4B1):c.876_877del (p.Cys293fs)
NM_001253852.3(AP4B1):c.926del (p.Gly309fs) rs2101025777
NM_001253852.3(AP4B1):c.967del (p.Ser323fs) rs745580319
NM_001253852.3(AP4B1):c.985A>T (p.Lys329Ter) rs2101024933
NM_004722.4(AP4M1):c.1012del (p.Arg338fs) rs2116668499
NM_004722.4(AP4M1):c.1183_1196del (p.Thr395fs)
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.32del (p.Lys11fs) rs797045249
NM_004722.4(AP4M1):c.403C>T (p.Gln135Ter)
NM_004722.4(AP4M1):c.52_58+6del rs1350685858
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter) rs1796279189
NM_004722.4(AP4M1):c.555_556del (p.Asn185fs) rs2116643498
NM_004722.4(AP4M1):c.568del (p.Asp190fs)
NM_004722.4(AP4M1):c.63_64del (p.Asp23fs)
NM_004722.4(AP4M1):c.697G>T (p.Glu233Ter)
NM_004722.4(AP4M1):c.776_777del (p.Val259fs) rs1397027035
NM_004722.4(AP4M1):c.842_843del (p.Val281fs) rs776788025
NM_004722.4(AP4M1):c.861dup (p.Asp288fs)
NM_004722.4(AP4M1):c.923C>G (p.Ser308Ter) rs1131691556
NM_004722.4(AP4M1):c.929+5G>A rs1293317548
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_006594.5:c.667del rs2101027843
NM_007347.5(AP4E1):c.1359_1360insNN (p.Val454fs) rs2140861877
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_007347.5(AP4E1):c.542+5_542+8del rs2141147450
NM_007347.5(AP4E1):c.942_943+3delinsCC rs2141164878

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.