ClinVar Miner

List of variants reported as uncertain significance for Osteopetrosis with renal tubular acidosis by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000067.2(CA2):c.-138G>A rs557422827 0.00101
NM_000067.3(CA2):c.*17G>A rs140653628 0.00074
NM_000067.3(CA2):c.462G>A (p.Pro154=) rs140623407 0.00029
NM_000067.3(CA2):c.*624T>C rs533282871 0.00027
NM_000067.3(CA2):c.677G>A (p.Arg226His) rs201928238 0.00009
NM_000067.3(CA2):c.*173T>C rs1041356270 0.00008
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000067.3(CA2):c.-53G>T rs886063148 0.00002
NM_000067.2(CA2):c.-176C>T rs886063146 0.00001
NM_000067.2(CA2):c.-84_-82dup rs886063147 0.00001
NM_000067.3(CA2):c.*562T>C rs886063153 0.00001
NM_000067.3(CA2):c.-43G>C rs556311734 0.00001
NM_000067.3(CA2):c.192T>C (p.His64=) rs759693878 0.00001
NM_000067.3(CA2):c.40G>A (p.Glu14Lys) rs758659684 0.00001
NM_000067.3(CA2):c.539C>T (p.Pro180Leu) rs886063150 0.00001
NM_000067.3(CA2):c.87C>T (p.Ser29=) rs777914836 0.00001
NM_000067.2(CA2):c.-130C>A rs570970117
NM_000067.3(CA2):c.*374A>G rs886063151
NM_000067.3(CA2):c.*465A>C rs886063152
NM_000067.3(CA2):c.*535T>C rs1811887892
NM_000067.3(CA2):c.143_146del (p.Ser48fs) rs1564077060
NM_000067.3(CA2):c.508-7G>A rs886063149
NM_000067.3(CA2):c.74G>A (p.Gly25Glu) rs1811610973

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.