ClinVar Miner

List of variants reported as likely pathogenic for MHC class II deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.436+1G>A rs373613022 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_000246.4(CIITA):c.199+1G>A rs777089127 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.4(CIITA):c.200-1G>C
NM_000246.4(CIITA):c.2657+1G>A rs2039309312
NM_000246.4(CIITA):c.2698C>T (p.Gln900Ter)
NM_000246.4(CIITA):c.2889-1G>T rs748505119
NM_000246.4(CIITA):c.3062+2T>C rs2039957389
NM_000246.4(CIITA):c.3147_3149+2del rs2145059680
NM_000246.4(CIITA):c.338dup (p.Leu114fs) rs1596513253
NM_000246.4(CIITA):c.359-2A>G rs2144414230
NM_000246.4(CIITA):c.436+1G>C
NM_000246.4(CIITA):c.436+2T>C
NM_000246.4(CIITA):c.481+1G>A
NM_000246.4(CIITA):c.482-1G>C
NM_000246.4(CIITA):c.772+1G>T
NM_000246.4(CIITA):c.937+2T>C
NM_000246.4(CIITA):c.938-2A>G rs2144645392
NM_000538.4(RFXAP):c.287C>A (p.Ser96Ter)
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_001025603.2(RFX5):c.117-1G>T
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.353+2T>G rs1183832067
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_001025603.2(RFX5):c.859-2A>G
NM_003721.4(RFXANK):c.188-2del rs2146483253
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.337+2_337+3del rs1568579235
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.419_438+38del rs1568579997
NM_003721.4(RFXANK):c.460del (p.Ala154fs) rs2060634316
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003721.4(RFXANK):c.564+2T>C
NM_003721.4(RFXANK):c.713-1G>A rs2060720733

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