ClinVar Miner

List of variants in gene AP4E1 studied for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.1967-91A>G rs2306335 0.79763
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.1066+51T>C rs2291107 0.20641
NM_007347.5(AP4E1):c.150+33A>G rs76674534 0.16669
NM_007347.5(AP4E1):c.2905-8A>G rs56813592 0.01851
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_007347.5(AP4E1):c.171G>A (p.Gln57=) rs28463775 0.00543
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_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_007347.5(AP4E1):c.2346+10C>T rs112190952 0.00228
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_007347.5(AP4E1):c.3079C>T (p.Leu1027=) rs187436884 0.00011
NM_007347.5(AP4E1):c.2813A>G (p.Asp938Gly) rs372620158 0.00006
NM_007347.5(AP4E1):c.2149C>T (p.Pro717Ser) rs150743968 0.00005
NM_007347.5(AP4E1):c.3117C>T (p.Asp1039=) rs752693324 0.00001
NM_007347.4(AP4E1):c.[1549G>A;2401G>A]
NM_007347.5(AP4E1):c.1316+44_1316+54del rs144809125
NM_007347.5(AP4E1):c.1675A>C (p.Thr559Pro) rs1176175925
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter) rs1555462184
NM_007347.5(AP4E1):c.3096-57dup rs3840015
NM_007347.5(AP4E1):c.382C>T (p.His128Tyr) rs2063738778
NM_007347.5(AP4E1):c.617T>C (p.Ile206Thr) rs1264635526

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.