ClinVar Miner

List of variants reported as pathogenic for T+ B+ severe combined immunodeficiency

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_001905.4(CTPS1):c.1692-1G>C rs145092287 0.00015
NM_032415.7(CARD11):c.676C>T (p.Gln226Ter) rs1404170214 0.00001
NC_000007.13:g.(?_2972149)_(2972240_?)del
NC_000007.13:g.(?_2998114)_(2998160_?)del
NC_000007.14:g.(?_2944192)_(2947807_?)del
NM_001556.3(IKBKB):c.1292dup (p.Gln432fs) rs886041036
NM_001556.3(IKBKB):c.1392C>A (p.Cys464Ter)
NM_001556.3(IKBKB):c.1429C>T (p.Gln477Ter)
NM_001556.3(IKBKB):c.1609del (p.Arg536_Met537insTer)
NM_001556.3(IKBKB):c.163C>T (p.Arg55Ter) rs1190950389
NM_001556.3(IKBKB):c.1696C>T (p.Gln566Ter)
NM_001556.3(IKBKB):c.1705G>T (p.Glu569Ter) rs2130681529
NM_001556.3(IKBKB):c.1731dup (p.Pro578fs) rs2130681744
NM_001556.3(IKBKB):c.1735C>T (p.Arg579Ter)
NM_001556.3(IKBKB):c.1762C>T (p.Gln588Ter)
NM_001556.3(IKBKB):c.1847_1848del (p.Val616fs)
NM_001556.3(IKBKB):c.1927_1928del (p.Val643fs) rs1205793780
NM_001556.3(IKBKB):c.2116del (p.Glu706fs)
NM_001556.3(IKBKB):c.25del (p.Thr9fs) rs2129978037
NM_001556.3(IKBKB):c.607G>A (p.Val203Ile) rs1563340753
NM_001556.3(IKBKB):c.814C>T (p.Arg272Ter) rs200296680
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) rs1818665697
NM_032415.5(CARD11):c.2704-890_2839+352del
NM_032415.7(CARD11):c.140G>A (p.Arg47His) rs765680532
NM_032415.7(CARD11):c.146G>A (p.Cys49Tyr) rs794729673
NM_032415.7(CARD11):c.1663del (p.Arg555fs)
NM_032415.7(CARD11):c.1893C>G (p.Tyr631Ter)
NM_032415.7(CARD11):c.2062C>T (p.Arg688Ter) rs2115044716
NM_032415.7(CARD11):c.2437G>T (p.Glu813Ter) rs542412710
NM_032415.7(CARD11):c.2509C>T (p.Arg837Ter) rs1554271741
NM_032415.7(CARD11):c.2579del (p.Gly860fs)
NM_032415.7(CARD11):c.2650dup (p.Arg884fs) rs2115035271
NM_032415.7(CARD11):c.2671C>T (p.Arg891Ter)
NM_032415.7(CARD11):c.2683del (p.Leu895fs)
NM_032415.7(CARD11):c.2833C>T (p.Gln945Ter) rs397514686
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032415.7(CARD11):c.367G>A (p.Gly123Ser) rs387907352
NM_032415.7(CARD11):c.368G>A (p.Gly123Asp) rs571517554
NM_032415.7(CARD11):c.793C>T (p.Gln265Ter) rs2115075086
NM_032415.7(CARD11):c.799del (p.Leu267fs) rs2115075051
NM_032415.7(CARD11):c.88C>T (p.Arg30Trp) rs145474800

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