ClinVar Miner

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

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000074.2(CD40LG):c.-191A>C rs36206512 0.02791
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_000074.3(CD40LG):c.369G>A (p.Ala123=) rs148581967 0.00007
NM_000074.3(CD40LG):c.327C>A (p.Asn109Lys) rs1318466267 0.00003
NM_000074.3(CD40LG):c.409+12A>G rs759260732 0.00002
NM_000074.3(CD40LG):c.156+11C>A rs776610381 0.00001
NM_000074.3(CD40LG):c.360T>C (p.Pro120=) rs2076118899 0.00001
NM_000074.3(CD40LG):c.387G>A (p.Glu129=) rs746052549 0.00001
NM_000074.3(CD40LG):c.409+14C>T rs376624219 0.00001
NM_000074.3(CD40LG):c.478C>G (p.Gln160Glu) rs767889061 0.00001
NM_000074.3(CD40LG):c.654C>T (p.Cys218=) rs368157256 0.00001
NM_000074.3(CD40LG):c.156+12C>T
NM_000074.3(CD40LG):c.156+18C>T
NM_000074.3(CD40LG):c.156+7T>A
NM_000074.3(CD40LG):c.157-15G>C
NM_000074.3(CD40LG):c.157-16T>C
NM_000074.3(CD40LG):c.157-19C>T
NM_000074.3(CD40LG):c.165T>C (p.Asp55=)
NM_000074.3(CD40LG):c.180T>C (p.His60=)
NM_000074.3(CD40LG):c.222A>G (p.Thr74=)
NM_000074.3(CD40LG):c.237A>G (p.Leu79=)
NM_000074.3(CD40LG):c.249C>T (p.Asn83=)
NM_000074.3(CD40LG):c.264A>G (p.Lys88=)
NM_000074.3(CD40LG):c.270G>A (p.Gln90=)
NM_000074.3(CD40LG):c.289-14G>C rs2148552371
NM_000074.3(CD40LG):c.289-14G>T
NM_000074.3(CD40LG):c.289-17A>G
NM_000074.3(CD40LG):c.289-18C>A rs1186292119
NM_000074.3(CD40LG):c.289-18C>T rs1186292119
NM_000074.3(CD40LG):c.289-19G>A
NM_000074.3(CD40LG):c.289-19G>T rs2148552369
NM_000074.3(CD40LG):c.289-27G>T
NM_000074.3(CD40LG):c.289-7A>G
NM_000074.3(CD40LG):c.312G>A (p.Glu104=) rs1305903200
NM_000074.3(CD40LG):c.346+12A>G
NM_000074.3(CD40LG):c.346+14T>A
NM_000074.3(CD40LG):c.346+16G>T
NM_000074.3(CD40LG):c.346+17C>T
NM_000074.3(CD40LG):c.346+5_346+11dup
NM_000074.3(CD40LG):c.347-14T>C
NM_000074.3(CD40LG):c.347-18T>A
NM_000074.3(CD40LG):c.347-18T>C
NM_000074.3(CD40LG):c.347-6T>A
NM_000074.3(CD40LG):c.375T>C (p.His125=)
NM_000074.3(CD40LG):c.384T>C (p.Ser128=) rs104894773
NM_000074.3(CD40LG):c.410-15C>G
NM_000074.3(CD40LG):c.410-5A>G
NM_000074.3(CD40LG):c.410-7G>A
NM_000074.3(CD40LG):c.504C>T (p.Leu168=)
NM_000074.3(CD40LG):c.516T>C (p.Tyr172=)
NM_000074.3(CD40LG):c.519C>A (p.Ala173=)
NM_000074.3(CD40LG):c.525C>T (p.Val175=)
NM_000074.3(CD40LG):c.552G>A (p.Ser184=)
NM_000074.3(CD40LG):c.597T>C (p.Gly199=)
NM_000074.3(CD40LG):c.603C>T (p.Phe201=)
NM_000074.3(CD40LG):c.618C>G (p.Leu206=)
NM_000074.3(CD40LG):c.618C>T (p.Leu206=) rs2148553751
NM_000074.3(CD40LG):c.621A>G (p.Arg207=) rs2148553754
NM_000074.3(CD40LG):c.633C>A (p.Thr211=)
NM_000074.3(CD40LG):c.673T>C (p.Leu225=)
NM_000074.3(CD40LG):c.691T>C (p.Leu231=)
NM_000074.3(CD40LG):c.708G>C (p.Ser236=)
NM_000074.3(CD40LG):c.720T>C (p.Asn240=)
NM_000074.3(CD40LG):c.747T>C (p.His249=)
NM_000074.3(CD40LG):c.750C>A (p.Gly250=)
NM_000074.3(CD40LG):c.750C>T (p.Gly250=)
NM_000074.3(CD40LG):c.753T>A (p.Thr251=)

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