ClinVar Miner

List of variants reported as benign for autosomal recessive osteopetrosis 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003701.4(TNFSF11):c.-127C>G rs9533157 0.99807
NM_003701.4(TNFSF11):c.*264G>T rs346575 0.99437
NM_003701.4(TNFSF11):c.387+14G>A rs2277439 0.80621
NM_003701.4(TNFSF11):c.126T>C (p.Pro42=) rs2296533 0.47237
NM_003701.4(TNFSF11):c.*948G>T rs1054016 0.36610
NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) rs9562415 0.03075
NM_003701.4(TNFSF11):c.*48T>C rs7994018 0.02917
NM_003701.4(TNFSF11):c.*383C>T rs9567000 0.02228
NM_003701.4(TNFSF11):c.147C>T (p.Phe49=) rs61735535 0.00938
NM_003701.4(TNFSF11):c.*704G>A rs34886516 0.00933
NM_003701.4(TNFSF11):c.*742G>A rs139327529 0.00897
NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) rs34151971 0.00843
NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) rs138974661 0.00709
NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) rs200788562 0.00262

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.