ClinVar Miner

List of variants reported as likely pathogenic by Department of Immunology,University Hospital Southampton NHSFT

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000116.5(TAZ):c.790A>G (p.Lys264Glu) rs1557194488
NM_003639.4(IKBKG):c.185G>A (p.Arg62Gln) rs782604431
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_032638.4(GATA2):c.526A>C (p.Thr176Pro) rs1553770978

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