ClinVar Miner

List of variants in gene CARD11 studied for Immunodeficiency 11b with atopic dermatitis

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_032415.7(CARD11):c.2839+70A>G rs1182157 0.99321
NM_032415.7(CARD11):c.2142+13C>T rs2527509 0.62838
NM_032415.7(CARD11):c.3276A>G (p.Arg1092=) rs1124581 0.54386
NM_032415.7(CARD11):c.1654-29C>T rs2527506 0.23485
NM_032415.7(CARD11):c.1599C>T (p.Asp533=) rs1621509 0.17254
NM_032415.7(CARD11):c.2449G>A (p.Ala817Thr) rs376539147 0.00005
NM_032415.7(CARD11):c.2368G>A (p.Ala790Thr) rs531252532 0.00003
NM_032415.7(CARD11):c.3019+5G>A rs752816910 0.00002
CARD11, GLU57ASP
NM_032415.7(CARD11):c.1245C>T (p.Asp415=) rs6945582
NM_032415.7(CARD11):c.128C>G (p.Thr43Arg)
NM_032415.7(CARD11):c.128C>T (p.Thr43Met) rs2115094112
NM_032415.7(CARD11):c.173A>G (p.Asp58Gly) rs1780506565
NM_032415.7(CARD11):c.1755-20A>C rs1182136
NM_032415.7(CARD11):c.179T>A (p.Val60Glu) rs1583410780
NM_032415.7(CARD11):c.191C>G (p.Pro64Arg) rs1583410771
NM_032415.7(CARD11):c.215G>T (p.Arg72Leu) rs2115093887
NM_032415.7(CARD11):c.220+1G>A rs1554276623
NM_032415.7(CARD11):c.223C>T (p.Arg75Trp) rs2115090664
NM_032415.7(CARD11):c.2324C>T (p.Ser775Leu)
NM_032415.7(CARD11):c.286G>A (p.Glu96Lys)
NM_032415.7(CARD11):c.2923C>T (p.Arg975Trp) rs1064795307
NM_032415.7(CARD11):c.358+1G>A rs2115090359
NM_032415.7(CARD11):c.547_588dup (p.Lys196_Val197insMetLysGluGluArgAspSerTyrAsnAspGluLeuValLys)
NM_032415.7(CARD11):c.88C>T (p.Arg30Trp) rs145474800
NP_115791.3:p.Leu194Pro
NP_115791.3:p.Met183_Lys196dup

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