List of variants in gene CIITA reported by Human Evolutionary Genetics, Institut Pasteur

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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000246.4(CIITA):c.2658-138G>A	rs199476075	0.00134
NM_000246.4(CIITA):c.3318-176C>T	rs199476081	0.00078
NM_000246.4(CIITA):c.3063-163T>C	rs199476078	0.00038
NM_000246.3(CIITA):c.-521A>G	rs199476056	0.00020
NM_000246.4(CIITA):c.207C>G (p.Asp69Glu)	rs199476061	0.00019
NM_000246.4(CIITA):c.1230G>A (p.Pro410=)	rs199476069	0.00014
NM_000246.4(CIITA):c.1007-94A>G	rs199476067	0.00009
NM_000246.4(CIITA):c.1684G>A (p.Ala562Thr)	rs199476070	0.00006
NM_000246.3(CIITA):c.-415C>T	rs199476058	0.00005
NM_000246.4(CIITA):c.2658-149G>T	rs199476074	0.00003
NM_000246.4(CIITA):c.2816+188T>G	rs199476076	0.00003
NM_000246.3(CIITA):c.-168G>A	rs199476059	0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys)	rs199476072	0.00001
NM_000246.4(CIITA):c.481+167G>A	rs199476063	0.00001
NM_000246.3(CIITA):c.-696C>T	rs199476055
NM_000246.4(CIITA):c.1007-54C>T	rs199476068
NM_000246.4(CIITA):c.1957C>A (p.Pro653Thr)	rs199476071
NM_000246.4(CIITA):c.2657+107C>A	rs199476073
NM_000246.4(CIITA):c.2945C>T (p.Ala982Val)	rs199476077
NM_000246.4(CIITA):c.3149+224C>G	rs199476079
NM_000246.4(CIITA):c.3150-77A>C	rs199476080
NM_000246.4(CIITA):c.359-23G>T	rs199476062
NM_000246.4(CIITA):c.482-162C>T	rs199476064
NM_000246.4(CIITA):c.580G>A (p.Glu194Lys)	rs199476065
NM_000246.4(CIITA):c.628+84G>A	rs199476066

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