ClinVar Miner

List of variants studied for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) rs606231420
NM_005214.5(CTLA4):c.109+1G>T rs606231421
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.567+5G>C rs606231419
NM_005214.5(CTLA4):c.75del (p.Leu28fs) rs606231418

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