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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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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.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

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