ClinVar Miner

List of variants reported as uncertain significance for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency by UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) rs1688731438

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