ClinVar Miner

List of variants studied for MHC class II deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_003721.4(RFXANK):c.37A>T (p.Thr13Ser) rs373342097 0.00004
NM_001025603.2(RFX5):c.1759A>T (p.Thr587Ser) rs769690666 0.00001
NM_000246.4(CIITA):c.929A>T (p.Asn310Ile) rs1567409783
NM_000538.4(RFXAP):c.524_527del (p.Lys175fs) rs2138213000

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