ClinVar Miner

List of variants reported as benign for hyper-IgM syndrome type 1 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_000074.3(CD40LG):c.148T>C (p.Leu50=) rs1126535 0.18453
NM_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_000074.3(CD40LG):c.81A>G (p.Leu27=) rs36063307 0.00313
NM_000074.3(CD40LG):c.601T>C (p.Phe201Leu) rs144827029 0.00057
NM_000074.3(CD40LG):c.32G>A (p.Arg11Gln) rs145115086 0.00024
NM_000074.3(CD40LG):c.708G>A (p.Ser236=) rs146620753 0.00016
NM_000074.3(CD40LG):c.487G>A (p.Val163Ile) rs199914973 0.00014
NM_000074.3(CD40LG):c.38C>T (p.Ala13Val) rs368003929 0.00012
NM_000074.3(CD40LG):c.550T>A (p.Ser184Thr) rs147340102 0.00011
NM_000074.3(CD40LG):c.114G>A (p.Gly38=) rs767319189 0.00010
NM_000074.3(CD40LG):c.30C>G (p.Pro10=) rs375387574 0.00010
NM_000074.3(CD40LG):c.600A>G (p.Arg200=) rs374246579 0.00010
NM_000074.3(CD40LG):c.595G>A (p.Gly199Ser) rs769728462 0.00009
NM_000074.3(CD40LG):c.594C>T (p.Pro198=) rs370353192 0.00008
NM_000074.3(CD40LG):c.39G>A (p.Ala13=) rs779460863 0.00006
NM_000074.3(CD40LG):c.314C>T (p.Thr105Met) rs376582437 0.00005
NM_000074.3(CD40LG):c.741G>C (p.Val247=) rs764969326 0.00005
NM_000074.3(CD40LG):c.204G>A (p.Thr68=) rs775209130 0.00003
NM_000074.3(CD40LG):c.6C>T (p.Ile2=) rs767236871 0.00003
NM_000074.3(CD40LG):c.156+17G>A rs755782893 0.00001
NM_000074.3(CD40LG):c.315G>A (p.Thr105=) rs778398894 0.00001
NM_000074.3(CD40LG):c.409+17C>T rs1195970071 0.00001
NM_000074.3(CD40LG):c.191T>C (p.Val64Ala)
NM_000074.3(CD40LG):c.232T>C (p.Ser78Pro) rs200672738
NM_000074.3(CD40LG):c.288+20del rs758537361
NM_000074.3(CD40LG):c.388G>A (p.Ala130Thr)
NM_000074.3(CD40LG):c.542G>A (p.Arg181Gln) rs11575982
NM_000074.3(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.3(CD40LG):c.589T>G (p.Ser197Ala)
NM_000074.3(CD40LG):c.642C>T (p.Ser214=)
NM_000074.3(CD40LG):c.698C>T (p.Pro233Leu)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.