ClinVar Miner

List of variants in gene AP1B1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127.4(AP1B1):c.2164-226T>C rs98069 0.65901
NM_001127.4(AP1B1):c.204A>G (p.Leu68=) rs2072051 0.63173
NM_001127.4(AP1B1):c.2163+182C>T rs6006098 0.60144
NM_001127.4(AP1B1):c.143+173T>C rs570731 0.38064
NM_001127.4(AP1B1):c.-27-192G>A rs4034938 0.37481
NM_001127.4(AP1B1):c.1156-114A>G rs737883 0.36320
NM_001127.4(AP1B1):c.38-93G>C rs6006105 0.33249
NM_001127.4(AP1B1):c.717-170C>G rs6006103 0.29745
NM_001127.4(AP1B1):c.2020-188G>A rs3747146 0.19974
NM_001127.4(AP1B1):c.1438-174G>A rs7285200 0.16908
NM_001127.4(AP1B1):c.1537-74A>G rs2301587 0.15675
NM_001127.4(AP1B1):c.*18A>G rs6006095 0.05496
NM_001127.4(AP1B1):c.143+27C>A rs8138200 0.05145
NM_001127.4(AP1B1):c.2019+96G>A rs34583478 0.04802
NM_001127.4(AP1B1):c.1983T>C (p.Gly661=) rs2228323 0.03657
NM_001127.4(AP1B1):c.1060-157T>G rs79760348 0.03656
NM_001127.4(AP1B1):c.1437+175A>C rs112869404 0.03649
NM_001127.4(AP1B1):c.526-180T>C rs76798358 0.03607
NM_001127.4(AP1B1):c.2163+27G>A rs59074009 0.03568
NM_001127.4(AP1B1):c.1537-39C>G rs75220707 0.03419
NM_001127.4(AP1B1):c.*146C>T rs74339735 0.03016
NM_001127.4(AP1B1):c.1437+130G>A rs114122511 0.02700
NM_001127.4(AP1B1):c.1233C>T (p.Ile411=) rs140314768 0.00011
NM_001127.4(AP1B1):c.687T>C (p.Tyr229=) rs201826297 0.00003
NM_001127.4(AP1B1):c.-27-74TCC[3] rs3044023
NM_001127.4(AP1B1):c.1280G>T (p.Ser427Ile) rs1183324698
NM_001127.4(AP1B1):c.1702G>A (p.Gly568Ser)
NM_001127.4(AP1B1):c.2259C>A (p.Asn753Lys) rs2147939173
NM_001127.4(AP1B1):c.2349G>A (p.Ala783=) rs174765
NM_001127.4(AP1B1):c.2524_2524+3dup rs2147931230
NM_001127.4(AP1B1):c.565G>C (p.Glu189Gln) rs570779704
NM_001127.4(AP1B1):c.581G>A (p.Ser194Asn)
NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys) rs1569159579
NM_001127.4(AP1B1):c.863del (p.Leu288fs)

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.