ClinVar Miner

List of variants in gene CD40LG studied for X-linked disease

Included ClinVar conditions (313):
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Total variants: 63
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HGVS dbSNP
CD40LG, 1-BP INS, TTT-TTTT, FS84TER
CD40LG, 10-BP DEL
CD40LG, 63-BP DEL
CD40LG, 8-BP DEL
CD40LG, ALU INS, EX1
CD40LG, THR211ASP
NC_000023.11:g.(?_136648058)_(136654450_?)del
NC_000023.11:g.(?_136648058)_(136659435_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NC_000023.11:g.(?_136654353)_(136654450_?)del
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.2(CD40LG):c.148T>C (p.Leu50=) rs1126535
NM_000074.2(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.2(CD40LG):c.288+1G>A rs1569376229
NM_000074.2(CD40LG):c.304_314del (p.Lys102fs) rs1569376925
NM_000074.2(CD40LG):c.31C>T (p.Arg11Ter) rs193922135
NM_000074.2(CD40LG):c.322_325delGAAA rs1569376930
NM_000074.2(CD40LG):c.330C>A (p.Ser110Arg) rs368691563
NM_000074.2(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.2(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.2(CD40LG):c.379A>G (p.Ile127Val) rs1052924444
NM_000074.2(CD40LG):c.38C>T (p.Ala13Val) rs368003929
NM_000074.2(CD40LG):c.403_405delACA rs1490893550
NM_000074.2(CD40LG):c.410-13T>C rs3092923
NM_000074.2(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.2(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.2(CD40LG):c.421G>C (p.Ala141Pro) rs1387503550
NM_000074.2(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.2(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.2(CD40LG):c.508_510delTAT rs1603321765
NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.2(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.2(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.2(CD40LG):c.684A>G (p.Val228=) rs11575983
NM_000074.2(CD40LG):c.703G>C (p.Ala235Pro) rs104894771
NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.2(CD40LG):c.761C>T (p.Thr254Met) rs193922136
NM_000074.2(CD40LG):c.773T>C (p.Leu258Ser) rs1569377884
NM_000074.2(CD40LG):c.7G>A (p.Glu3Lys) rs1350282799
NM_000074.2(CD40LG):c.81A>G (p.Leu27=) rs36063307
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile)
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe)
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086
NM_000074.3(CD40LG):c.347-1G>A
NM_000074.3(CD40LG):c.359del (p.Pro120fs) rs1603321138
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) rs148581967
NM_000074.3(CD40LG):c.386del (p.Glu129fs)
NM_000074.3(CD40LG):c.401del (p.Thr134fs)
NM_000074.3(CD40LG):c.410-3_410-2del rs1603321716
NM_000074.3(CD40LG):c.474del (p.Lys159fs)
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973
NM_000074.3(CD40LG):c.508dup (p.Tyr170fs)
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His)
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu)
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr)

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