ClinVar Miner

List of variants in gene CIITA, LOC130058443 studied for MHC class II deficiency

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Total variants: 22
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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.30G>A (p.Gly10=) rs911677004 0.00001
NM_000246.4(CIITA):c.38T>C (p.Leu13Pro) rs753169767 0.00001
NM_000246.4(CIITA):c.52+9G>A rs199476060 0.00001
NM_000246.4(CIITA):c.12G>C (p.Leu4=)
NM_000246.4(CIITA):c.14C>G (p.Ala5Gly) rs1596412331
NM_000246.4(CIITA):c.19C>A (p.Arg7Ser)
NM_000246.4(CIITA):c.21C>A (p.Arg7=) rs1251135434
NM_000246.4(CIITA):c.21C>G (p.Arg7=)
NM_000246.4(CIITA):c.23C>G (p.Pro8Arg)
NM_000246.4(CIITA):c.33C>A (p.Ser11=) rs1258720546
NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter) rs367628451
NM_000246.4(CIITA):c.47C>T (p.Pro16Leu) rs2035926531
NM_000246.4(CIITA):c.52+11C>A
NM_000246.4(CIITA):c.52+11C>T
NM_000246.4(CIITA):c.52+12G>A
NM_000246.4(CIITA):c.52+14G>A rs2143434692
NM_000246.4(CIITA):c.52+19C>T
NM_000246.4(CIITA):c.52+8G>T rs2143433710
NM_000246.4(CIITA):c.52+9G>T rs199476060

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