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

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.436+1G>A	rs373613022	0.00002
NM_000246.4(CIITA):c.199+1G>A	rs777089127	0.00001
NM_000246.4(CIITA):c.200-1G>C
NM_000246.4(CIITA):c.2657+1G>A	rs2039309312
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.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_001025603.2(RFX5):c.1706dup (p.Ser571fs)	rs763938154
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G	rs2102065180
NM_001025603.2(RFX5):c.556-2A>G	rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_003721.4(RFXANK):c.188-2del	rs2146483253
NM_003721.4(RFXANK):c.337+2_337+3del	rs1568579235
NM_003721.4(RFXANK):c.419_438+38del	rs1568579997

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