ClinVar Miner

List of variants in gene AP4E1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_007347.5(AP4E1):c.852A>G (p.Leu284=) rs114575519 0.00287
NM_007347.5(AP4E1):c.1276A>C (p.Ile426Leu) rs148817957 0.00109
NM_007347.5(AP4E1):c.613C>A (p.His205Asn) rs148499164 0.00052
NM_007347.5(AP4E1):c.258T>C (p.Tyr86=) rs143624283 0.00042
NM_007347.5(AP4E1):c.1566C>G (p.Ser522=) rs78870657 0.00035
NM_007347.5(AP4E1):c.1852G>A (p.Val618Ile) rs142215198 0.00034
NM_007347.5(AP4E1):c.2932C>T (p.Pro978Ser) rs141278078 0.00018
NM_007347.5(AP4E1):c.343G>A (p.Val115Ile) rs373566487 0.00004
NM_007347.5(AP4E1):c.2416G>A (p.Glu806Lys) rs756384880 0.00003
NM_007347.5(AP4E1):c.3277C>G (p.Gln1093Glu) rs773929706 0.00003
NM_007347.5(AP4E1):c.573A>T (p.Ala191=) rs368895241 0.00003
NM_007347.5(AP4E1):c.1383A>G (p.Val461=) rs142229425 0.00002
NM_007347.5(AP4E1):c.2103G>A (p.Leu701=) rs1462882290 0.00001
NM_007347.5(AP4E1):c.501A>G (p.Pro167=) rs983693914 0.00001
NM_007347.5(AP4E1):c.822A>G (p.Gln274=) rs991693986 0.00001
NM_007347.5(AP4E1):c.1469A>G (p.Tyr490Cys)
NM_007347.5(AP4E1):c.1694C>T (p.Ala565Val) rs142762839
NM_007347.5(AP4E1):c.1790A>C (p.His597Pro)
NM_007347.5(AP4E1):c.1851+2_1851+5dup rs778162120
NM_007347.5(AP4E1):c.1937G>A (p.Arg646His)
NM_007347.5(AP4E1):c.2164A>G (p.Lys722Glu) rs2140928276
NM_007347.5(AP4E1):c.2659del (p.His887fs) rs2140934862
NM_007347.5(AP4E1):c.2848A>T (p.Ser950Cys)
NM_007347.5(AP4E1):c.2874C>T (p.Asp958=) rs148111863
NM_007347.5(AP4E1):c.3197C>T (p.Pro1066Leu)
NM_007347.5(AP4E1):c.3256A>C (p.Asn1086His) rs1188248177
NM_007347.5(AP4E1):c.547A>T (p.Ile183Phe)

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.