ClinVar Miner

List of variants in gene CTLA4 reported as likely pathogenic for autoimmune disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) rs1581573705 0.00001
NM_005214.5(CTLA4):c.109+1G>A rs606231421
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.110-1G>A
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) rs1581573923
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923

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