ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NM_000544.3(TAP2):c.100G>A (p.Gly34Arg)
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.1588G>A (p.Asp530Asn)
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.1769A>G (p.Gln590Arg)
NM_000544.3(TAP2):c.1776G>A (p.Met592Ile) rs147150415
NM_000544.3(TAP2):c.1852G>T (p.Ala618Ser)
NM_000544.3(TAP2):c.1909C>A (p.Leu637Ile) rs752068310
NM_000544.3(TAP2):c.1933-6_1933-3del
NM_000544.3(TAP2):c.2005G>A (p.Ala669Thr)
NM_000544.3(TAP2):c.359G>T (p.Ser120Ile) rs932756573
NM_000544.3(TAP2):c.460G>T (p.Ala154Ser) rs1562339896
NM_000544.3(TAP2):c.529A>T (p.Ile177Phe)
NM_000544.3(TAP2):c.656C>T (p.Ser219Phe) rs1554235670
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_000593.5(TAP1):c.1157C>A (p.Ser386Tyr) rs779346609
NM_000593.5(TAP1):c.122C>T (p.Pro41Leu) rs554237124
NM_000593.5(TAP1):c.128G>C (p.Arg43Pro)
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.1383C>G (p.Asn461Lys) rs756823000
NM_000593.5(TAP1):c.1534A>G (p.Met512Val)
NM_000593.5(TAP1):c.1558-4C>G
NM_000593.5(TAP1):c.1637C>T (p.Pro546Leu)
NM_000593.5(TAP1):c.1699G>A (p.Asp567Asn)
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.2137T>A (p.Leu713Met)
NM_000593.5(TAP1):c.2156G>A (p.Arg719Gln) rs121917702
NM_000593.5(TAP1):c.2220+6G>A
NM_000593.5(TAP1):c.2311C>G (p.His771Asp)
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.496_516dup (p.Ala166_Leu172dup) rs1311169361
NM_000593.5(TAP1):c.504G>A (p.Pro168=)
NM_000593.5(TAP1):c.590C>G (p.Pro197Arg) rs1010241068
NM_000593.5(TAP1):c.73C>T (p.Pro25Ser)
NM_000593.5(TAP1):c.809G>A (p.Arg270His)
NM_000593.5(TAP1):c.869T>C (p.Leu290Pro) rs1562373816
NM_000593.5(TAP1):c.919G>A (p.Gly307Arg) rs59328013
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.1258G>A (p.Ala420Thr) rs1382572674
NM_003190.4(TAPBP):c.129_470-3609del
NM_003190.4(TAPBP):c.1300+3_1300+6delAAGT
NM_003190.4(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
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.590C>T (p.Pro197Leu)
NM_003190.4(TAPBP):c.601C>T (p.Pro201Ser)
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.974G>A (p.Gly325Asp)
NM_004048.3(B2M):c.5C>T (p.Ser2Phe) rs368160918

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