ClinVar Miner

List of variants studied for MHC class II deficiency by Genome-Nilou Lab

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Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.520= (p.Gly174=) rs8046121 0.98494
NM_001025603.2(RFX5):c.753C>T (p.Leu251=) rs1752386 0.97700
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NM_000246.4(CIITA):c.2888+34C>T rs4781019 0.49064
NM_000246.4(CIITA):c.482-45G>T rs6498124 0.46458
NM_000246.4(CIITA):c.3318-27G>A rs4781024 0.33728
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2816+57G>A rs7196089 0.27847
NM_000246.4(CIITA):c.629-116C>A rs4781016 0.27687
NM_000246.4(CIITA):c.772+24G>A rs35170497 0.27193
NM_000246.4(CIITA):c.938-119T>C rs4780333 0.21332
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2969+80C>A rs7500869 0.19175
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_001025603.2(RFX5):c.1226C>G (p.Pro409Arg) rs2233854 0.11448
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_001025603.2(RFX5):c.64G>A (p.Ala22Thr) rs2233843 0.01686
NM_001025603.2(RFX5):c.900C>T (p.Leu300=) rs2233853 0.00879
NM_001025603.2(RFX5):c.590G>A (p.Arg197Gln) rs2233851 0.00866
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn) rs142053610 0.00167
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_001025603.2(RFX5):c.982C>A (p.Arg328=) rs78854744 0.00031
NM_001025603.2(RFX5):c.914G>A (p.Arg305Gln) rs374354196 0.00025
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=) rs137968641 0.00016
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_001025603.2(RFX5):c.1322C>G (p.Ala441Gly) rs148572733 0.00006
NM_001025603.2(RFX5):c.474-3C>A rs373984217 0.00006
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_000246.4(CIITA):c.2335G>A (p.Ala779Thr) rs747159521 0.00003
NM_001025603.2(RFX5):c.778C>T (p.Arg260Trp) rs573462368 0.00003
NM_001025603.2(RFX5):c.984G>A (p.Arg328=) rs374283593 0.00003
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr) rs966468525 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1178G>C (p.Gly393Ala) rs779249436 0.00001
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_000246.4(CIITA):c.199+89C>T rs11074937
NM_000246.4(CIITA):c.2970-74G>T rs6498130
NM_000246.4(CIITA):c.359-67T>G rs6498121
NM_000538.4(RFXAP):c.*33del rs398022347
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln) rs759307276
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val) rs201420133
NM_001025603.2(RFX5):c.1387A>G (p.Lys463Glu)
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp) rs1557830458
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.784C>G (p.Arg262Gly) rs773920954

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