List of variants reported as benign for MHC class II deficiency by Genome-Nilou Lab

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Total variants: 31

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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.982C>A (p.Arg328=)	rs78854744	0.00031
NM_001025603.2(RFX5):c.984G>A (p.Arg328=)	rs374283593	0.00003
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

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