ClinVar Miner

List of variants reported as likely benign for Immunodeficiency 37 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_003921.5(BCL10):c.346+6A>G rs112473614 0.00138
NM_003921.5(BCL10):c.58-5T>C rs572902078 0.00020
NM_003921.5(BCL10):c.486G>A (p.Thr162=) rs374017925 0.00011
NM_003921.5(BCL10):c.57+9C>T rs369858521 0.00007
NM_003921.5(BCL10):c.205T>C (p.Leu69=) rs745539994 0.00006
NM_003921.5(BCL10):c.58-18A>G rs376905449 0.00006
NM_003921.5(BCL10):c.6G>A (p.Glu2=) rs200626032 0.00004
NM_003921.5(BCL10):c.489G>A (p.Thr163=) rs139473915 0.00003
NM_003921.5(BCL10):c.360C>T (p.Ser120=) rs759056975 0.00002
NM_003921.5(BCL10):c.123A>G (p.Leu41=) rs767842296 0.00001
NM_003921.5(BCL10):c.33G>A (p.Glu11=) rs755937538 0.00001
NM_003921.5(BCL10):c.347-4G>T rs764388331 0.00001
NM_003921.5(BCL10):c.366T>C (p.Cys122=) rs766089591 0.00001
NM_003921.5(BCL10):c.687T>C (p.Thr229=) rs767413256 0.00001
NM_003921.5(BCL10):c.121C>T (p.Leu41=)
NM_003921.5(BCL10):c.12C>T (p.Thr4=)
NM_003921.5(BCL10):c.132A>G (p.Lys44=)
NM_003921.5(BCL10):c.141C>T (p.Leu47=)
NM_003921.5(BCL10):c.156T>C (p.Thr52=) rs774921761
NM_003921.5(BCL10):c.165T>A (p.Ile55=)
NM_003921.5(BCL10):c.27C>T (p.Thr9=) rs779616837
NM_003921.5(BCL10):c.294G>A (p.Lys98=)
NM_003921.5(BCL10):c.333A>G (p.Leu111=) rs763402710
NM_003921.5(BCL10):c.346+8dup
NM_003921.5(BCL10):c.348A>G (p.Gly116=)
NM_003921.5(BCL10):c.390G>A (p.Thr130=) rs1003194232
NM_003921.5(BCL10):c.402C>T (p.Ser134=) rs745885764
NM_003921.5(BCL10):c.42T>A (p.Thr14=) rs1570341297
NM_003921.5(BCL10):c.529C>T (p.Leu177=) rs1360050843
NM_003921.5(BCL10):c.54G>A (p.Lys18=)
NM_003921.5(BCL10):c.552T>C (p.Asn184=) rs2100743257
NM_003921.5(BCL10):c.57+13G>A
NM_003921.5(BCL10):c.57+16G>A
NM_003921.5(BCL10):c.588G>A (p.Gly196=) rs1570329297
NM_003921.5(BCL10):c.597G>A (p.Gly199=)
NM_003921.5(BCL10):c.621A>G (p.Leu207=)
NM_003921.5(BCL10):c.699A>G (p.Gln233=)
NM_003921.5(BCL10):c.72A>G (p.Leu24=)
NM_003921.5(BCL10):c.82C>T (p.Leu28=) rs760915277

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