List of variants in gene combination CIITA, LOC130058443 reported as uncertain significance 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.20G>A (p.Arg7His)	rs374703179	0.00007
NM_000246.4(CIITA):c.19C>T (p.Arg7Cys)	rs202176090	0.00006
NM_000246.4(CIITA):c.44A>G (p.Glu15Gly)	rs572170388	0.00006
NM_000246.4(CIITA):c.38T>C (p.Leu13Pro)	rs753169767	0.00001
NM_000246.4(CIITA):c.14C>G (p.Ala5Gly)	rs1596412331
NM_000246.4(CIITA):c.19C>A (p.Arg7Ser)
NM_000246.4(CIITA):c.23C>G (p.Pro8Arg)
NM_000246.4(CIITA):c.47C>T (p.Pro16Leu)	rs2035926531

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