ClinVar Miner

List of variants in gene LOC107648851, TAP2 studied for MHC class I deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001290043.2(TAP2):c.494-42G>C rs2071465 0.39868
NM_001290043.2(TAP2):c.608+7G>A rs2071466 0.26274
NM_001290043.2(TAP2):c.739+12A>T rs28724898 0.05022
NM_001290043.2(TAP2):c.608+8G>A rs2071467 0.03652
NM_001290043.2(TAP2):c.494-11G>T rs56115039 0.01338
NM_001290043.2(TAP2):c.658C>A (p.Arg220=) rs142794316 0.00886
NM_001290043.2(TAP2):c.537C>T (p.Ile179=) rs150583253 0.00039
NM_001290043.2(TAP2):c.701T>A (p.Leu234Gln) rs138708621 0.00031
NM_001290043.2(TAP2):c.703C>T (p.Arg235Cys) rs145890763 0.00023
NM_001290043.2(TAP2):c.515A>T (p.Tyr172Phe) rs777069495 0.00006
NM_001290043.2(TAP2):c.677G>A (p.Arg226Gln) rs371802164 0.00004
NM_001290043.2(TAP2):c.684G>A (p.Gln228=) rs760549490 0.00004
NM_001290043.2(TAP2):c.529A>T (p.Ile177Phe) rs761121102 0.00003
NM_001290043.2(TAP2):c.739+19G>T rs764261291 0.00003
NM_001290043.2(TAP2):c.609-19T>C rs778623201 0.00002
NM_001290043.2(TAP2):c.676C>T (p.Arg226Trp) rs536291251 0.00002
NM_001290043.2(TAP2):c.714C>T (p.Leu238=) rs539200475 0.00002
NM_001290043.2(TAP2):c.513C>G (p.His171Gln) rs1270127514 0.00001
NM_001290043.2(TAP2):c.576C>T (p.Ala192=) rs370372252 0.00001
NM_001290043.2(TAP2):c.608+15G>T rs772360977 0.00001
NM_001290043.2(TAP2):c.656C>T (p.Ser219Phe) rs1554235670 0.00001
NM_001290043.2(TAP2):c.661A>G (p.Ile221Val) rs764363057 0.00001
NM_001290043.2(TAP2):c.665A>G (p.Asn222Ser) rs1252311955 0.00001
NM_001290043.2(TAP2):c.739+10G>A rs781718817 0.00001
NM_001290043.2(TAP2):c.494-10C>T
NM_001290043.2(TAP2):c.494-13A>G rs757984250
NM_001290043.2(TAP2):c.494-2A>G rs2127367115
NM_001290043.2(TAP2):c.494G>A (p.Gly165Asp) rs1769504477
NM_001290043.2(TAP2):c.524G>A (p.Arg175His) rs1769502410
NM_001290043.2(TAP2):c.526G>A (p.Val176Met)
NM_001290043.2(TAP2):c.552T>C (p.Phe184=)
NM_001290043.2(TAP2):c.561T>G (p.His187Gln) rs2127366964
NM_001290043.2(TAP2):c.580T>G (p.Phe194Val) rs1769497083
NM_001290043.2(TAP2):c.591C>T (p.Cys197=)
NM_001290043.2(TAP2):c.594C>G (p.Leu198=)
NM_001290043.2(TAP2):c.606C>T (p.Gly202=) rs2127366882
NM_001290043.2(TAP2):c.609-14C>T
NM_001290043.2(TAP2):c.609-16T>C
NM_001290043.2(TAP2):c.609-7C>G
NM_001290043.2(TAP2):c.609-7C>T
NM_001290043.2(TAP2):c.620C>T (p.Ala207Val)
NM_001290043.2(TAP2):c.629G>A (p.Arg210Gln)
NM_001290043.2(TAP2):c.658C>T (p.Arg220Ter)
NM_001290043.2(TAP2):c.659G>A (p.Arg220Gln)
NM_001290043.2(TAP2):c.667T>C (p.Leu223=)
NM_001290043.2(TAP2):c.670C>T (p.Arg224Trp)
NM_001290043.2(TAP2):c.672G>T (p.Arg224=) rs776829392
NM_001290043.2(TAP2):c.687T>G (p.Leu229=)
NM_001290043.2(TAP2):c.690C>T (p.Phe230=)
NM_001290043.2(TAP2):c.704G>A (p.Arg235His) rs148976382
NM_001290043.2(TAP2):c.715G>A (p.Gly239Ser) rs779665536
NM_001290043.2(TAP2):c.724C>T (p.Gln242Ter)
NM_001290043.2(TAP2):c.727G>A (p.Glu243Lys) rs1473544417
NM_001290043.2(TAP2):c.728A>G (p.Glu243Gly)
NM_001290043.2(TAP2):c.730A>G (p.Thr244Ala)
NM_001290043.2(TAP2):c.736A>G (p.Thr246Ala)
NM_001290043.2(TAP2):c.739+18G>C
NM_001290043.2(TAP2):c.739+20T>A
NM_001290043.2(TAP2):c.739+9T>G rs2127363892

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.