ClinVar Miner

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

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NC_000023.11:g.(?_136650246)_(136654450_?)del
NM_000074.2(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.2(CD40LG):c.189del (p.Phe63fs) rs193922134
NM_000074.2(CD40LG):c.288+1G>A rs1569376229
NM_000074.2(CD40LG):c.322_325delGAAA rs1569376930
NM_000074.2(CD40LG):c.520C>T (p.Gln174Ter) rs1603321772
NM_000074.2(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.2(CD40LG):c.661C>T (p.Gln221Ter) rs1603321834
NM_000074.2(CD40LG):c.761C>A (p.Thr254Lys) rs193922136

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