ClinVar Miner

List of variants studied for MHC class I deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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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.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.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.529A>T (p.Ile177Phe)
NM_000544.3(TAP2):c.656C>T (p.Ser219Phe) rs1554235670
NM_000544.3(TAP2):c.658C>A (p.Arg220=) rs142794316
NM_000544.3(TAP2):c.701T>A (p.Leu234Gln)
NM_000544.3(TAP2):c.703C>T (p.Arg235Cys)
NM_000544.3(TAP2):c.727G>A (p.Glu243Lys) rs1473544417
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
NM_000593.5(TAP1):c.1037C>T (p.Ser346Phe) rs2228111
NM_000593.5(TAP1):c.1151C>G (p.Ser384Ter)
NM_000593.5(TAP1):c.1157C>A (p.Ser386Tyr) rs779346609
NM_000593.5(TAP1):c.122C>T (p.Pro41Leu) rs554237124
NM_000593.5(TAP1):c.1231-3C>T rs56366814
NM_000593.5(TAP1):c.1289C>T (p.Ala430Val) rs2127679
NM_000593.5(TAP1):c.128G>C (p.Arg43Pro)
NM_000593.5(TAP1):c.12T>G (p.Leu4=) rs148176741
NM_000593.5(TAP1):c.1300A>T (p.Met434Leu) rs779844691
NM_000593.5(TAP1):c.1313G>A (p.Arg438Gln) rs373810087
NM_000593.5(TAP1):c.1335C>T (p.Gly445=) rs139907578
NM_000593.5(TAP1):c.1383C>G (p.Asn461Lys) rs756823000
NM_000593.5(TAP1):c.1435G>T (p.Gly479Cys) rs2228110
NM_000593.5(TAP1):c.1534A>G (p.Met512Val)
NM_000593.5(TAP1):c.1552G>T (p.Val518Leu) rs41550019
NM_000593.5(TAP1):c.1558-4C>G
NM_000593.5(TAP1):c.161G>A (p.Arg54Gln) rs113585939
NM_000593.5(TAP1):c.1637C>T (p.Pro546Leu)
NM_000593.5(TAP1):c.1699G>A (p.Asp567Asn)
NM_000593.5(TAP1):c.1727C>T (p.Pro576Leu) rs2228106
NM_000593.5(TAP1):c.1732G>A (p.Val578Ile) rs41561219
NM_000593.5(TAP1):c.1773C>T (p.Gly591=) rs144951468
NM_000593.5(TAP1):c.1781C>T (p.Thr594Met)
NM_000593.5(TAP1):c.184G>A (p.Ala62Thr)
NM_000593.5(TAP1):c.1903C>T (p.Arg635Cys) rs1168560265
NM_000593.5(TAP1):c.191C>T (p.Ser64Phe)
NM_000593.5(TAP1):c.199C>T (p.Pro67Ser)
NM_000593.5(TAP1):c.2005A>G (p.Met669Val)
NM_000593.5(TAP1):c.2123G>A (p.Arg708Gln) rs1057149
NM_000593.5(TAP1):c.2137T>A (p.Leu713Met)
NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln) rs121917702
NM_000593.5(TAP1):c.2163G>A (p.Pro721=) rs41551515
NM_000593.5(TAP1):c.2220+6G>A
NM_000593.5(TAP1):c.2256C>T (p.Tyr752=) rs56337036
NM_000593.5(TAP1):c.229G>C (p.Gly77Arg) rs57640466
NM_000593.5(TAP1):c.2311C>G (p.His771Asp)
NM_000593.5(TAP1):c.2362C>A (p.Gln788Lys) rs74897484
NM_000593.5(TAP1):c.2399T>C (p.Val800Ala) rs1554242514
NM_000593.5(TAP1):c.289C>T (p.Arg97Trp)
NM_000593.5(TAP1):c.295G>T (p.Ala99Ser)
NM_000593.5(TAP1):c.339A>G (p.Pro113=) rs144037908
NM_000593.5(TAP1):c.496_516dup (p.Ala166_Leu172dup) rs1311169361
NM_000593.5(TAP1):c.504G>A (p.Pro168=)
NM_000593.5(TAP1):c.508C>G (p.Leu170Val) rs2228108
NM_000593.5(TAP1):c.572T>C (p.Leu191Pro) rs142907576
NM_000593.5(TAP1):c.590C>G (p.Pro197Arg) rs1010241068
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.66G>C (p.Ser22=) rs760815768
NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)
NM_000593.5(TAP1):c.768C>G (p.Leu256=) rs2228109
NM_000593.5(TAP1):c.809G>A (p.Arg270His)
NM_000593.5(TAP1):c.869T>C (p.Leu290Pro) rs1562373816
NM_000593.5(TAP1):c.910G>T (p.Val304Leu) rs36229525
NM_000593.5(TAP1):c.919G>A (p.Gly307Arg) rs59328013
NM_000593.5(TAP1):c.942C>T (p.Gly314=) rs41549617
NM_000593.5(TAP1):c.989G>A (p.Arg330His) rs140245535
NM_003190.4(TAPBP):c.1001G>A (p.Gly334Asp)
NM_003190.4(TAPBP):c.1046T>C (p.Leu349Pro)
NM_003190.4(TAPBP):c.1069G>A (p.Asp357Asn)
NM_003190.4(TAPBP):c.1180C>T (p.Arg394Cys)
NM_003190.4(TAPBP):c.1181G>A (p.Arg394His) rs763198738
NM_003190.4(TAPBP):c.1234G>A (p.Asp412Asn) rs138516982
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.1258G>A (p.Ala420Thr) rs1382572674
NM_003190.4(TAPBP):c.129_470-3609del
NM_003190.4(TAPBP):c.1300+3_1300+6del
NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
NM_003190.4(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.4(TAPBP):c.312del (p.Lys104fs)
NM_003190.4(TAPBP):c.369G>A (p.Trp123Ter) rs1554279286
NM_003190.4(TAPBP):c.464C>G (p.Ala155Gly) rs747106102
NM_003190.4(TAPBP):c.556C>T (p.Pro186Ser)
NM_003190.4(TAPBP):c.562A>G (p.Thr188Ala)
NM_003190.4(TAPBP):c.562A>T (p.Thr188Ser) rs561629511
NM_003190.4(TAPBP):c.563C>T (p.Thr188Ile) rs142455342
NM_003190.4(TAPBP):c.573C>T (p.Ala191=) rs34349100
NM_003190.4(TAPBP):c.590C>T (p.Pro197Leu)
NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)
NM_003190.4(TAPBP):c.753C>T (p.Thr251=) rs147684698
NM_003190.4(TAPBP):c.845del (p.Val282fs) rs765712832
NM_003190.4(TAPBP):c.872C>A (p.Pro291His)
NM_003190.4(TAPBP):c.932C>T (p.Pro311Leu)
NM_003190.4(TAPBP):c.972G>A (p.Gly324=) rs61739590
NM_003190.4(TAPBP):c.974G>A (p.Gly325Asp)
NM_004048.3(B2M):c.5C>T (p.Ser2Phe) rs368160918

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