ClinVar Miner

List of variants reported as benign for MHC class I deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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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.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.658C>A (p.Arg220=) rs142794316
NM_000544.3(TAP2):c.918G>A (p.Ala306=) rs556799828
NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe) rs2228111
NM_000593.5(TAP1):c.1289C>T (p.Ala430Val) rs2127679
NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys) rs2228110
NM_000593.5(TAP1):c.1552G>T (p.Val518Leu) rs41550019
NM_000593.5(TAP1):c.161G>A (p.Arg54Gln) rs113585939
NM_000593.5(TAP1):c.1732G>A (p.Val578Ile) rs41561219
NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln) rs1057149
NM_000593.5(TAP1):c.2163G>A (p.Pro721=) rs41551515
NM_000593.5(TAP1):c.229G>C (p.Gly77Arg) rs57640466
NM_000593.5(TAP1):c.2362C>A (p.Gln788Lys) rs74897484
NM_000593.5(TAP1):c.603T>C (p.Val201=) rs55702652
NM_000593.5(TAP1):c.618G>A (p.Ala206=) rs78410191
NM_000593.5(TAP1):c.645C>T (p.His215=) rs56016563
NM_000593.5(TAP1):c.768C>G (p.Leu256=) rs2228109
NM_000593.5(TAP1):c.910G>T (p.Val304Leu) rs36229525
NM_000593.5(TAP1):c.942C>T (p.Gly314=) rs41549617
NM_003190.4(TAPBP):c.1239C>T (p.Ser413=) rs34132052
NM_003190.4(TAPBP):c.1252C>T (p.Leu418=) rs144706539
NM_003190.4(TAPBP):c.573C>T (p.Ala191=) rs34349100
NM_003190.4(TAPBP):c.972G>A (p.Gly324=) rs61739590

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