ClinVar Miner

List of variants reported as benign for Hypertrophic osteoarthropathy, primary, autosomal recessive, 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000860.5(HPGD):c.-453A>G rs1346270 1.00000
NM_000860.6(HPGD):c.*1726C>T rs2612691 0.79043
NM_000860.6(HPGD):c.*1725G>A rs2555660 0.79041
NM_000860.6(HPGD):c.*630G>A rs8752 0.48994
NM_000860.6(HPGD):c.156G>A (p.Gln52=) rs1050145 0.37000
NM_000860.5(HPGD):c.-404G>C rs1346271 0.30150
NM_000860.6(HPGD):c.662+24C>G rs34299544 0.21148
NM_000860.6(HPGD):c.*1154T>C rs9312555 0.16796
NM_000860.6(HPGD):c.*418G>T rs2253270 0.08704
NM_000860.6(HPGD):c.*132G>A rs2253170 0.04949
NM_000860.6(HPGD):c.489C>T (p.Arg163=) rs17060544 0.01946
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) rs148874494 0.00475
NM_000860.6(HPGD):c.680A>G (p.Asn227Ser) rs117270501 0.00028

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.