ClinVar Miner

List of variants reported as pathogenic for autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) rs1688714312 0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)del
NC_000002.11:g.(?_204731519)_(204732794_?)del
NC_000002.11:g.(?_204734049)_(204737535_?)del
NC_000002.12:g.(?_203444868)_(203957883_?)del
NC_000002.12:g.(?_203866796)_(203959619_?)del
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) rs1688711686
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) rs606231417
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) rs1559591695
NM_005214.5(CTLA4):c.216dup (p.Val73fs)
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) rs1688714490
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) rs1688714703
NM_005214.5(CTLA4):c.260del (p.Ala87fs) rs1688715336
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) rs1688716836
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) rs1581571813
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) rs1553657429
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) rs1553657430
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) rs1357409506
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) rs1688718864
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter)
NM_005214.5(CTLA4):c.458-1G>C rs1688729428
NM_005214.5(CTLA4):c.458-1G>T rs1688729428
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter)
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) rs1688656690
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) rs2105772857
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) rs1581571901

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