ClinVar Miner

List of variants reported as benign for hyperimmunoglobulinemia D with periodic fever by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996

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.