List of variants in gene CIITA reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.520= (p.Gly174=)	rs8046121	0.98494
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg)	rs7197779	0.92908
NM_000246.4(CIITA):c.2676G>A (p.Thr892=)	rs2228238	0.64681
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala)	rs4774	0.27935
NM_000246.4(CIITA):c.2421G>T (p.Leu807=)	rs34654419	0.21279
NM_000246.4(CIITA):c.2394G>A (p.Pro798=)	rs2229320	0.16037
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala)	rs13336804	0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=)	rs2229321	0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu)	rs13330686	0.06264
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp)	rs78108426	0.01496
NM_000246.4(CIITA):c.2888+1G>A	rs372826934	0.00003
NM_000246.4(CIITA):c.338dup (p.Leu114fs)	rs1596513253

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