ClinVar Miner

List of variants in gene CD40LG reported as likely pathogenic for X-linked disease

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_135738495)_(135741594_?)del
NC_000023.11:g.(?_136650246)_(136654450_?)del
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.3(CD40LG):c.288+1G>A rs1569376229
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter) rs2076113325
NM_000074.3(CD40LG):c.346G>T (p.Gly116Cys) rs2148552406
NM_000074.3(CD40LG):c.373C>T (p.His125Tyr) rs1603321148
NM_000074.3(CD40LG):c.431G>A (p.Gly144Glu) rs886039326
NM_000074.3(CD40LG):c.514T>C (p.Tyr172His) rs2076127133
NM_000074.3(CD40LG):c.515A>G (p.Tyr172Cys)
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.3(CD40LG):c.634del (p.His212fs)
NM_000074.3(CD40LG):c.687T>A (p.Phe229Leu)
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000074.3(CD40LG):c.761C>A (p.Thr254Lys) rs193922136
NM_000074.3(CD40LG):c.767T>C (p.Phe256Ser) rs1057521128
NM_000074.3(CD40LG):c.770G>T (p.Gly257Val)

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