ClinVar Miner

List of variants in gene BCL10 reported as uncertain significance for Immunodeficiency 37

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_003921.5(BCL10):c.289C>G (p.Gln97Glu) rs150019339 0.00026
NM_003921.5(BCL10):c.260G>A (p.Arg87Gln) rs187744101 0.00011
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.181A>G (p.Ser61Gly) rs542952039 0.00002
NM_003921.5(BCL10):c.263G>A (p.Arg88Gln) rs147850504 0.00002
NM_003921.5(BCL10):c.395A>G (p.Asn132Ser) rs748039228 0.00002
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.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
NC_000001.10:g.(?_85733310)_(85742035_?)dup
NM_003921.5(BCL10):c.151G>C (p.Asp51His) rs1570333814
NM_003921.5(BCL10):c.271A>C (p.Thr91Pro) rs1660347523
NM_003921.5(BCL10):c.285_286delinsCG (p.Ile96Val) rs1660346727
NM_003921.5(BCL10):c.322A>G (p.Asn108Asp) rs1660345284
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.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.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.530T>G (p.Leu177Arg) rs1038881728
NM_003921.5(BCL10):c.58-3del rs754835118
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.76G>A (p.Val26Ile) rs2100748126

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