ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 47
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HGVS dbSNP
NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)
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.1147C>T (p.Leu383=) rs761704456
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.1272+1G>A rs1222208628
NM_000544.3(TAP2):c.1318G>T (p.Ala440Ser)
NM_000544.3(TAP2):c.1334C>T (p.Ser445Phe)
NM_000544.3(TAP2):c.1373C>T (p.Thr458Met)
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.1588G>A (p.Asp530Asn)
NM_000544.3(TAP2):c.162G>A (p.Lys54=) rs56064400
NM_000544.3(TAP2):c.1655A>G (p.Glu552Gly)
NM_000544.3(TAP2):c.1714G>A (p.Glu572Lys)
NM_000544.3(TAP2):c.1720G>A (p.Asp574Asn)
NM_000544.3(TAP2):c.1752C>T (p.His584=) rs144543918
NM_000544.3(TAP2):c.1769A>G (p.Gln590Arg)
NM_000544.3(TAP2):c.1776G>A (p.Met592Ile) rs147150415
NM_000544.3(TAP2):c.1826C>T (p.Ala609Val) rs74770812
NM_000544.3(TAP2):c.1827G>A (p.Ala609=) rs764437170
NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)
NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile) rs752068310
NM_000544.3(TAP2):c.1920G>A (p.Gln640=) rs145894663
NM_000544.3(TAP2):c.1933-6_1933-3del
NM_000544.3(TAP2):c.1993G>A (p.Ala665Thr) rs241447
NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)
NM_000544.3(TAP2):c.2059C>T (p.Gln687Ter) rs241448
NM_000544.3(TAP2):c.2070G>A (p.Gln690=) rs770581305
NM_000544.3(TAP2):c.2091T>G (p.Val697=) rs241449
NM_000544.3(TAP2):c.217_218del (p.Thr73fs) rs1321880935
NM_000544.3(TAP2):c.222C>A (p.Pro74=) rs2229526
NM_000544.3(TAP2):c.235C>T (p.Leu79=) rs749689805
NM_000544.3(TAP2):c.359G>T (p.Ser120Ile) rs932756573
NM_000544.3(TAP2):c.44T>C (p.Val15Ala) rs55827768
NM_000544.3(TAP2):c.460G>T (p.Ala154Ser) rs1562339896
NM_000544.3(TAP2):c.4C>T (p.Arg2Trp) rs61736918
NM_000544.3(TAP2):c.817C>T (p.Arg273Ter)
NM_000544.3(TAP2):c.818G>A (p.Arg273Gln)
NM_000544.3(TAP2):c.848G>C (p.Gly283Ala) rs1278521116
NM_000544.3(TAP2):c.918G>A (p.Ala306=) rs556799828
NM_000544.3(TAP2):c.958del (p.Glu320fs) rs1562331529
NM_000544.3(TAP2):c.970G>A (p.Ala324Thr) rs143726288
NM_000544.3(TAP2):c.983C>G (p.Ala328Gly) rs148663600
TAP2, 1-BP DEL

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