ClinVar Miner

List of variants studied for obsolete AP4-related intellectual disability and spastic paraplegia by Genome-Nilou Lab

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_001128126.3(AP4S1):c.295-34T>G rs11621299 0.88578
NM_007347.5(AP4E1):c.1967-91A>G rs2306335 0.79763
NM_007347.5(AP4E1):c.542+59G>A rs2306332 0.60959
NM_004722.4(AP4M1):c.544-75T>C rs4729577 0.57574
NM_004722.4(AP4M1):c.147+35T>C rs2293481 0.57556
NM_007347.5(AP4E1):c.222+48_222+49insT rs3214932 0.57174
NM_007347.5(AP4E1):c.346+50G>C rs2663553 0.57162
NM_007347.5(AP4E1):c.222+18G>A rs1147129 0.56600
NM_001128126.3(AP4S1):c.139-110A>G rs7150619 0.46271
NM_004722.4(AP4M1):c.462+34G>A rs999885 0.46041
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg) rs2306331 0.43394
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser) rs1217401 0.42071
NM_001253852.3(AP4B1):c.618-13G>C rs3789613 0.31448
NM_004722.4(AP4M1):c.1025+44T>C rs2293479 0.26357
NM_007347.5(AP4E1):c.1066+51T>C rs2291107 0.20641
NM_007347.5(AP4E1):c.3387G>A (p.Gln1129=) rs3825798 0.19899
NM_007347.5(AP4E1):c.150+33A>G rs76674534 0.16669
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_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=) rs114201291 0.01466
NM_007347.5(AP4E1):c.1085A>G (p.Tyr362Cys) rs58909326 0.01464
NM_007347.5(AP4E1):c.2429C>T (p.Thr810Ile) rs75130619 0.01213
NM_007347.5(AP4E1):c.542+11T>G rs58882998 0.00762
NM_001253852.3(AP4B1):c.1793-9C>G rs17031980 0.00589
NM_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
NM_001253852.3(AP4B1):c.240A>G (p.Pro80=) rs34249695 0.00525
NM_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
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_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile) rs143286419 0.00130
NM_001253852.3(AP4B1):c.217T>A (p.Cys73Ser) rs552888524 0.00053
NM_001253852.3(AP4B1):c.69A>G (p.Gln23=) rs117872964 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_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe) rs147573619 0.00009
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.1591C>T (p.Arg531Trp) rs745939325 0.00006
NM_001253852.3(AP4B1):c.909C>A (p.Ile303=) rs147184856 0.00006
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.1177C>T (p.Arg393Ter) rs374894037 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.1748G>A (p.Arg583His) rs530540257 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.682C>T (p.Arg228Cys) rs371514044 0.00004
NM_001253852.3(AP4B1):c.1044G>A (p.Val348=) rs763730264 0.00003
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.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp) rs74361335 0.00003
NM_001253852.3(AP4B1):c.388C>T (p.Arg130Trp) rs550100552 0.00003
NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys) rs756404463 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.670C>T (p.Arg224Cys) rs138216814 0.00002
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.1111A>G (p.Ile371Val) rs797045242 0.00001
NM_001253852.3(AP4B1):c.112A>G (p.Arg38Gly) rs773391519 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.1284G>A (p.Glu428=) rs752215351 0.00001
NM_001253852.3(AP4B1):c.1526T>C (p.Met509Thr) rs1043676103 0.00001
NM_001253852.3(AP4B1):c.1540C>T (p.Arg514Ter) rs767220480 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_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_001128126.3(AP4S1):c.138+63G>C rs6571386
NM_001128126.3(AP4S1):c.139-65C>G rs7155228
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs) rs1558100393
NM_001253852.3(AP4B1):c.1030A>C (p.Asn344His)
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1331G>A (p.Gly444Asp)
NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg) rs748049847
NM_001253852.3(AP4B1):c.1608T>A (p.Pro536=) rs1558079074
NM_001253852.3(AP4B1):c.1703G>A (p.Gly568Asp) rs759495705
NM_001253852.3(AP4B1):c.198G>C (p.Lys66Asn) rs374241047
NM_001253852.3(AP4B1):c.298A>G (p.Met100Val) rs752682155
NM_001253852.3(AP4B1):c.470-6T>G
NM_001253852.3(AP4B1):c.480G>C (p.Leu160=)
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser) rs753402898
NM_001253852.3(AP4B1):c.576_577delinsTA (p.Val193Ile) rs1553259191
NM_007347.5(AP4E1):c.1316+44_1316+54del rs144809125
NM_007347.5(AP4E1):c.3096-57dup rs3840015

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