ClinVar Miner

List of variants in gene TAP2 reported as benign for MHC class I deficiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000544.3(TAP2):c.1120G>A (p.Ala374Thr) rs111303994
NM_000544.3(TAP2):c.1144-6_1144-5delinsAC rs386699797
NM_000544.3(TAP2):c.1158G>T (p.Gly386=) rs2228397
NM_000544.3(TAP2):c.1161G>A (p.Val387=) rs2856992
NM_000544.3(TAP2):c.1374G>A (p.Thr458=) rs149495208
NM_000544.3(TAP2):c.1398_1399delinsAA (p.Val467Ile) rs369909014
NM_000544.3(TAP2):c.1462-7T>C rs201974007
NM_000544.3(TAP2):c.162G>A (p.Lys54=) rs56064400
NM_000544.3(TAP2):c.1826C>T (p.Ala609Val) rs74770812
NM_000544.3(TAP2):c.1920G>A (p.Gln640=) rs145894663
NM_000544.3(TAP2):c.1993G>A (p.Ala665Thr) rs241447
NM_000544.3(TAP2):c.2059C>T (p.Gln687Ter) rs241448
NM_000544.3(TAP2):c.2091T>G (p.Val697=) rs241449
NM_000544.3(TAP2):c.222C>A (p.Pro74=) rs2229526
NM_000544.3(TAP2):c.44T>C (p.Val15Ala) rs55827768
NM_000544.3(TAP2):c.4C>T (p.Arg2Trp) rs61736918
NM_000544.3(TAP2):c.918G>A (p.Ala306=) rs556799828

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