List of variants reported as likely benign for MHC class II deficiency by Illumina Laboratory Services, Illumina

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_003721.4(RFXANK):c.-116T>C	rs1050483	0.17071
NM_003721.4(RFXANK):c.144G>C (p.Glu48Asp)	rs34282046	0.04400
NM_003721.4(RFXANK):c.-240A>T	rs73922821	0.04278
NM_003721.4(RFXANK):c.-229C>T	rs79003009	0.03213
NM_003721.4(RFXANK):c.712+4A>G	rs73922830	0.03058
NM_003721.4(RFXANK):c.*9T>C	rs73922832	0.03001
NM_003721.4(RFXANK):c.-366C>A	rs116660619	0.02905
NM_001025603.2(RFX5):c.-67T>G	rs138110902	0.00585
NM_000246.4(CIITA):c.*157C>T	rs45526038	0.00565
NM_003721.4(RFXANK):c.751C>G (p.Gln251Glu)	rs1802498	0.00545
NM_001025603.2(RFX5):c.*1413A>C	rs368014716	0.00425
NM_000246.4(CIITA):c.2448C>T (p.Ala816=)	rs112250421	0.00272
NM_000246.4(CIITA):c.53-12C>T	rs112310350	0.00260
NM_000538.4(RFXAP):c.*479G>A	rs117112761	0.00251
NM_000538.4(RFXAP):c.354G>C (p.Ser118=)	rs113555392	0.00220
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn)	rs115220304	0.00216
NM_000538.4(RFXAP):c.*1194A>G	rs11539183	0.00175
NM_001025603.2(RFX5):c.1379G>A (p.Ser460Asn)	rs142053610	0.00167
NM_000538.4(RFXAP):c.756A>G (p.Gln252=)	rs141918438	0.00087
NM_000246.4(CIITA):c.-115T>G	rs189636033	0.00031
NM_003721.4(RFXANK):c.188-11C>T	rs201545133	0.00029
NM_001025603.2(RFX5):c.1569G>A (p.Glu523=)	rs137968641	0.00016
NM_000246.4(CIITA):c.1230G>A (p.Pro410=)	rs199476069	0.00014
NM_000538.4(RFXAP):c.430G>A (p.Glu144Lys)	rs201754085	0.00009
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln)	rs548646642
NM_003721.4(RFXANK):c.-328G>A	rs62135502
NM_003721.4(RFXANK):c.535C>T (p.Arg179Cys)	rs115964828

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