ClinVar Miner

List of variants in gene CIITA reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000246.3(CIITA):c.-286G= rs3087456 0.47237
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000246.4(CIITA):c.3317+1G>A rs771073292 0.00001
NM_000246.4(CIITA):c.1141G>T (p.Glu381Ter) rs137852602
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter) rs863223293
NM_000246.4(CIITA):c.2890_2969+1del rs1555507411
NM_000246.4(CIITA):c.3080_3082del (p.Ile1027del) rs2145057679

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