ClinVar Miner

List of variants in gene CD40LG reported as pathogenic for hematologic disorder

Included ClinVar conditions (819):
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.770G>A (p.Gly257Asp) rs1477466218 0.00001
CD40LG, 10-BP DEL
CD40LG, THR211ASP
NC_000023.10:g.(?_135730388)_(135737600_?)del
NC_000023.10:g.(?_135730408)_(135732576_?)del
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NG_007280.1:g.5145_5146insAluAluYb8inv
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.111_141del (p.Gly38fs)
NM_000074.3(CD40LG):c.133del (p.Tyr45fs) rs2076095044
NM_000074.3(CD40LG):c.138del (p.His47fs)
NM_000074.3(CD40LG):c.156+1G>A
NM_000074.3(CD40LG):c.156+2T>C rs2148550585
NM_000074.3(CD40LG):c.158_161del
NM_000074.3(CD40LG):c.15C>A (p.Tyr5Ter) rs2148550523
NM_000074.3(CD40LG):c.189dup (p.Val64fs) rs193922134
NM_000074.3(CD40LG):c.208C>T (p.Gln70Ter)
NM_000074.3(CD40LG):c.229del (p.Arg77fs)
NM_000074.3(CD40LG):c.268C>T (p.Gln90Ter)
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.289-1G>A rs2148552379
NM_000074.3(CD40LG):c.299T>A (p.Leu100Ter)
NM_000074.3(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.3(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.3(CD40LG):c.322_325del (p.Glu108fs) rs1569376930
NM_000074.3(CD40LG):c.340del (p.Gln114fs)
NM_000074.3(CD40LG):c.346+1G>A rs2148552407
NM_000074.3(CD40LG):c.346+1G>T
NM_000074.3(CD40LG):c.346+5G>A rs2148552412
NM_000074.3(CD40LG):c.347-1G>A rs2076118841
NM_000074.3(CD40LG):c.347-2A>G rs1569377237
NM_000074.3(CD40LG):c.349_409+2del rs2148552900
NM_000074.3(CD40LG):c.359del (p.Pro120fs) rs1603321138
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.385G>T (p.Glu129Ter) rs1215852570
NM_000074.3(CD40LG):c.386del (p.Glu129fs) rs2076119100
NM_000074.3(CD40LG):c.401del (p.Thr134fs) rs2076119189
NM_000074.3(CD40LG):c.409+1G>C rs2148552941
NM_000074.3(CD40LG):c.409+2T>C
NM_000074.3(CD40LG):c.412_419del
NM_000074.3(CD40LG):c.418T>C (p.Trp140Arg) rs104894777
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.3(CD40LG):c.420G>C (p.Trp140Cys)
NM_000074.3(CD40LG):c.421G>C (p.Ala141Pro) rs1387503550
NM_000074.3(CD40LG):c.431del (p.Gly144fs)
NM_000074.3(CD40LG):c.438C>G (p.Tyr146Ter)
NM_000074.3(CD40LG):c.43del (p.Thr15fs)
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.3(CD40LG):c.470del (p.Asn157fs) rs2148553684
NM_000074.3(CD40LG):c.474del (p.Lys159fs) rs2076126996
NM_000074.3(CD40LG):c.478C>T (p.Gln160Ter) rs767889061
NM_000074.3(CD40LG):c.499G>A (p.Gly167Arg)
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs) rs2076127075
NM_000074.3(CD40LG):c.510T>G (p.Tyr170Ter)
NM_000074.3(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.3(CD40LG):c.556C>T (p.Gln186Ter) rs2076127276
NM_000074.3(CD40LG):c.559del (p.Ala187fs) rs1556143529
NM_000074.3(CD40LG):c.594dup (p.Gly199fs)
NM_000074.3(CD40LG):c.598A>T (p.Arg200Ter) rs2148553738
NM_000074.3(CD40LG):c.654C>A (p.Cys218Ter)
NM_000074.3(CD40LG):c.658C>T (p.Gln220Ter) rs1085307733
NM_000074.3(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.3(CD40LG):c.694C>T (p.Gln232Ter) rs2076127875
NM_000074.3(CD40LG):c.701del (p.Gly234fs)
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000074.3(CD40LG):c.756del (p.Phe253fs)
NM_000074.3(CD40LG):c.761C>T (p.Thr254Met) rs193922136

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