ClinVar Miner

List of variants in gene BCL10, LOC126805771 studied for Immunodeficiency 37

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_003921.5(BCL10):c.24C>G (p.Leu8=) rs11576939 0.27956
NM_003921.5(BCL10):c.57+11C>G rs12562182 0.06788
NM_003921.5(BCL10):c.13G>T (p.Ala5Ser) rs12037217 0.02271
NM_003921.5(BCL10):c.57+13G>A rs199588735 0.00011
NM_003921.5(BCL10):c.57+9C>T rs369858521 0.00007
NM_003921.5(BCL10):c.6G>A (p.Glu2=) rs200626032 0.00004
NM_003921.5(BCL10):c.12C>T (p.Thr4=) rs1292365915 0.00002
NM_003921.5(BCL10):c.14C>G (p.Ala5Gly) rs778423633 0.00001
NM_003921.5(BCL10):c.27C>T (p.Thr9=) rs779616837 0.00001
NM_003921.5(BCL10):c.33G>A (p.Glu11=) rs755937538 0.00001
NM_003921.5(BCL10):c.54G>A (p.Lys18=) rs757265980 0.00001
NM_003921.5(BCL10):c.14dup (p.Pro6fs) rs2527119870
NM_003921.5(BCL10):c.1A>T (p.Met1Leu) rs2527119955
NM_003921.5(BCL10):c.20C>G (p.Ser7Cys) rs1268648553
NM_003921.5(BCL10):c.28G>A (p.Glu10Lys) rs1403156514
NM_003921.5(BCL10):c.36C>T (p.Asp12=)
NM_003921.5(BCL10):c.42T>A (p.Thr14=) rs1570341297
NM_003921.5(BCL10):c.42T>G (p.Thr14=)
NM_003921.5(BCL10):c.57+16G>A rs2527119569
NM_003921.5(BCL10):c.57+1G>A rs606231305

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