ClinVar Miner

List of variants in gene CD40LG reported as uncertain significance for X-linked disease

Included ClinVar conditions (275):
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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.379A>G (p.Ile127Val) rs1052924444 0.00002
NM_000074.3(CD40LG):c.551C>T (p.Ser184Leu) rs371041193 0.00002
NM_000074.3(CD40LG):c.26C>T (p.Ser9Phe) rs1338696512 0.00001
NM_000074.3(CD40LG):c.288+6C>T rs773041323 0.00001
NM_000074.3(CD40LG):c.290A>G (p.Asp97Gly) rs1004051141 0.00001
NM_000074.3(CD40LG):c.330C>A (p.Ser110Arg) rs368691563 0.00001
NM_000074.3(CD40LG):c.368C>T (p.Ala123Val) rs104894778 0.00001
NM_000074.3(CD40LG):c.393C>G (p.Ser131Arg) rs1210201609 0.00001
NM_000074.3(CD40LG):c.394A>C (p.Ser132Arg) rs770773481 0.00001
NM_000074.3(CD40LG):c.562C>G (p.Pro188Ala) rs1245452261 0.00001
NM_000074.3(CD40LG):c.7G>A (p.Glu3Lys) rs1350282799 0.00001
NC_000023.10:g.(?_135730408)_(135741574_?)dup
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>C (p.Met36Thr) rs104894774
NM_000074.3(CD40LG):c.108G>A (p.Met36Ile) rs2076095000
NM_000074.3(CD40LG):c.122T>C (p.Leu41Pro) rs2148550578
NM_000074.3(CD40LG):c.137T>G (p.Leu46Arg)
NM_000074.3(CD40LG):c.156+4A>G rs2148550590
NM_000074.3(CD40LG):c.203C>T (p.Thr68Met) rs2148551094
NM_000074.3(CD40LG):c.208C>G (p.Gln70Glu) rs2148551102
NM_000074.3(CD40LG):c.270G>C (p.Gln90His)
NM_000074.3(CD40LG):c.314C>A (p.Thr105Lys)
NM_000074.3(CD40LG):c.347-915A>T
NM_000074.3(CD40LG):c.347G>A (p.Gly116Asp) rs2148552902
NM_000074.3(CD40LG):c.376G>T (p.Val126Phe) rs2148552915
NM_000074.3(CD40LG):c.38C>A (p.Ala13Glu)
NM_000074.3(CD40LG):c.400ACA[1] (p.Thr135del) rs1490893550
NM_000074.3(CD40LG):c.410-3_410-2del rs1603321716
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn) rs1569377744
NM_000074.3(CD40LG):c.430G>A (p.Gly144Arg) rs2076126859
NM_000074.3(CD40LG):c.433T>A (p.Tyr145Asn) rs762639528
NM_000074.3(CD40LG):c.440C>A (p.Thr147Asn) rs1057521127
NM_000074.3(CD40LG):c.470A>C (p.Asn157Thr)
NM_000074.3(CD40LG):c.479A>C (p.Gln160Pro)
NM_000074.3(CD40LG):c.49C>G (p.Leu17Val) rs1359082888
NM_000074.3(CD40LG):c.500G>T (p.Gly167Val)
NM_000074.3(CD40LG):c.505TAT[1] (p.Tyr170del) rs1603321765
NM_000074.3(CD40LG):c.512T>A (p.Ile171Asn)
NM_000074.3(CD40LG):c.514T>G (p.Tyr172Asp)
NM_000074.3(CD40LG):c.518C>T (p.Ala173Val)
NM_000074.3(CD40LG):c.527C>T (p.Thr176Ile)
NM_000074.3(CD40LG):c.608G>C (p.Arg203Thr) rs2076127596
NM_000074.3(CD40LG):c.60C>G (p.Ser20Arg)
NM_000074.3(CD40LG):c.643G>A (p.Ala215Thr)
NM_000074.3(CD40LG):c.667A>G (p.Ile223Val)
NM_000074.3(CD40LG):c.676G>A (p.Gly226Arg) rs1603321840
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000074.3(CD40LG):c.692T>G (p.Leu231Trp)
NM_000074.3(CD40LG):c.73A>G (p.Met25Val) rs2076094894
NM_000074.3(CD40LG):c.740T>C (p.Val247Ala)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.762G>C (p.Thr254=)
NM_000074.3(CD40LG):c.773T>C (p.Leu258Ser) rs1569377884

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