ClinVar Miner

List of variants in gene combination CIITA, LOC130058443 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.30G>A (p.Gly10=) rs911677004 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.21C>A (p.Arg7=) rs1251135434
NM_000246.4(CIITA):c.21C>G (p.Arg7=)
NM_000246.4(CIITA):c.33C>A (p.Ser11=) rs1258720546
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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