ClinVar Miner

List of variants in gene CTLA4 reported as benign for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) rs231775 0.39951
NM_005214.5(CTLA4):c.*1148+236G>A rs3087243 0.36123
NC_000002.12:g.203866796C>T rs16840252 0.16493
NC_000002.12:g.203867624C>T rs5742909 0.06759
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) rs16840275 0.00761
NM_005214.5(CTLA4):c.*375G>A rs13384548 0.00105

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