ClinVar Miner

List of variants studied for Immunodeficiency 37 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 93
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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 0.06272
NM_003921.5(BCL10):c.638G>A (p.Gly213Glu) rs3768235 0.04435
NM_003921.5(BCL10):c.13G>T (p.Ala5Ser) rs12037217 0.02166
NM_003921.5(BCL10):c.347-5T>C rs77663629 0.00770
NM_003921.5(BCL10):c.346+6A>G rs112473614 0.00138
NM_003921.5(BCL10):c.289C>G (p.Gln97Glu) rs150019339 0.00026
NM_003921.5(BCL10):c.58-5T>C rs572902078 0.00020
NM_003921.5(BCL10):c.260G>A (p.Arg87Gln) rs187744101 0.00011
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.568A>G (p.Thr190Ala) rs556621354 0.00004
NM_003921.5(BCL10):c.694C>T (p.Arg232Ter) rs376302558 0.00004
NM_003921.5(BCL10):c.695G>A (p.Arg232Gln) rs547793946 0.00004
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.181A>G (p.Ser61Gly) rs542952039 0.00002
NM_003921.5(BCL10):c.263G>A (p.Arg88Gln) rs147850504 0.00002
NM_003921.5(BCL10):c.360C>T (p.Ser120=) rs759056975 0.00002
NM_003921.5(BCL10):c.395A>G (p.Asn132Ser) rs748039228 0.00002
NM_003921.5(BCL10):c.123A>G (p.Leu41=) rs767842296 0.00001
NM_003921.5(BCL10):c.286A>G (p.Ile96Val) rs756231389 0.00001
NM_003921.5(BCL10):c.325A>G (p.Ile109Val) rs1437336153 0.00001
NM_003921.5(BCL10):c.338A>T (p.His113Leu) rs775016059 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.379G>A (p.Asp127Asn) rs1264518434 0.00001
NM_003921.5(BCL10):c.445G>A (p.Ala149Thr) rs1381387146 0.00001
NM_003921.5(BCL10):c.578C>T (p.Pro193Leu) rs943467000 0.00001
NM_003921.5(BCL10):c.58G>A (p.Ala20Thr) rs1660354259 0.00001
NM_003921.5(BCL10):c.682C>T (p.Arg228Cys) rs1557784897 0.00001
NM_003921.5(BCL10):c.685A>T (p.Thr229Ser) rs780769969 0.00001
NM_003921.5(BCL10):c.687T>C (p.Thr229=) rs767413256 0.00001
NC_000001.10:g.(?_85733310)_(85742035_?)dup
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.14C>G (p.Ala5Gly)
NM_003921.5(BCL10):c.14dup (p.Pro6fs)
NM_003921.5(BCL10):c.151G>C (p.Asp51His) rs1570333814
NM_003921.5(BCL10):c.156T>C (p.Thr52=) rs774921761
NM_003921.5(BCL10):c.165T>A (p.Ile55=)
NM_003921.5(BCL10):c.172C>T (p.Arg58Ter) rs121918314
NM_003921.5(BCL10):c.1A>T (p.Met1Leu)
NM_003921.5(BCL10):c.20C>G (p.Ser7Cys)
NM_003921.5(BCL10):c.217C>T (p.Gln73Ter)
NM_003921.5(BCL10):c.271A>C (p.Thr91Pro) rs1660347523
NM_003921.5(BCL10):c.27C>T (p.Thr9=) rs779616837
NM_003921.5(BCL10):c.285_286delinsCG (p.Ile96Val) rs1660346727
NM_003921.5(BCL10):c.28G>A (p.Glu10Lys) rs1403156514
NM_003921.5(BCL10):c.294G>A (p.Lys98=)
NM_003921.5(BCL10):c.322A>G (p.Asn108Asp) rs1660345284
NM_003921.5(BCL10):c.333A>G (p.Leu111=) rs763402710
NM_003921.5(BCL10):c.346+8dup
NM_003921.5(BCL10):c.346+9T>C rs538273638
NM_003921.5(BCL10):c.348A>G (p.Gly116=)
NM_003921.5(BCL10):c.356G>A (p.Cys119Tyr)
NM_003921.5(BCL10):c.360_362dup (p.Ser121dup) rs773197133
NM_003921.5(BCL10):c.366T>G (p.Cys122Trp)
NM_003921.5(BCL10):c.370C>G (p.Pro124Ala) rs1250409831
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.419del (p.Glu140fs) rs2100743682
NM_003921.5(BCL10):c.424A>C (p.Asn142His)
NM_003921.5(BCL10):c.425A>G (p.Asn142Ser)
NM_003921.5(BCL10):c.42T>A (p.Thr14=) rs1570341297
NM_003921.5(BCL10):c.433G>C (p.Glu145Gln) rs2100743637
NM_003921.5(BCL10):c.433_437delinsTTTTT (p.Glu145_Lys146delinsPheLeu) rs1660247391
NM_003921.5(BCL10):c.485C>T (p.Thr162Met)
NM_003921.5(BCL10):c.505A>C (p.Asn169His)
NM_003921.5(BCL10):c.529C>A (p.Leu177Ile)
NM_003921.5(BCL10):c.529C>G (p.Leu177Val) rs1360050843
NM_003921.5(BCL10):c.529C>T (p.Leu177=) rs1360050843
NM_003921.5(BCL10):c.530T>G (p.Leu177Arg) rs1038881728
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.58-3del rs754835118
NM_003921.5(BCL10):c.58-3dup rs754835118
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.624G>C (p.Gln208His) rs1164194685
NM_003921.5(BCL10):c.649A>G (p.Asn217Asp) rs2100743032
NM_003921.5(BCL10):c.699A>G (p.Gln233=)
NM_003921.5(BCL10):c.72A>G (p.Leu24=)
NM_003921.5(BCL10):c.76G>A (p.Val26Ile) rs2100748126
NM_003921.5(BCL10):c.82C>T (p.Leu28=) rs760915277

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