ClinVar Miner

List of variants in gene OSTM1 reported as uncertain significance for autosomal recessive osteopetrosis 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_014028.4(OSTM1):c.*3060G>A rs563889052 0.00092
NM_014028.4(OSTM1):c.*2371G>A rs865891537 0.00089
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_014028.4(OSTM1):c.*168T>G rs571193624 0.00047
NM_014028.4(OSTM1):c.933A>G (p.Lys311=) rs146289365 0.00041
NM_014028.4(OSTM1):c.*2145A>T rs147517615 0.00031
NM_014028.4(OSTM1):c.*1205C>G rs145514255 0.00029
NM_014028.4(OSTM1):c.*147G>T rs117394334 0.00029
NM_014028.4(OSTM1):c.*3186T>C rs562003144 0.00024
NM_014028.4(OSTM1):c.*2799A>G rs747305519 0.00022
NM_014028.4(OSTM1):c.*1085T>G rs543280303 0.00021
NM_014028.4(OSTM1):c.*1166A>G rs557667717 0.00018
NM_014028.4(OSTM1):c.*2035A>G rs548119179 0.00016
NM_014028.4(OSTM1):c.*2277G>A rs778098156 0.00013
NM_014028.4(OSTM1):c.*432T>G rs369418567 0.00013
NM_014028.4(OSTM1):c.*2195T>G rs924418376 0.00012
NM_014028.4(OSTM1):c.*751C>T rs925420631 0.00009
NM_014028.4(OSTM1):c.*953C>T rs886060968 0.00008
NM_014028.4(OSTM1):c.*1634A>G rs886060964 0.00005
NM_014028.4(OSTM1):c.*3256A>G rs528019563 0.00004
NM_014028.4(OSTM1):c.*835G>T rs528945967 0.00004
NM_014028.4(OSTM1):c.*177A>G rs886060971 0.00003
NM_014028.4(OSTM1):c.*2769G>T rs998848985 0.00003
NM_014028.4(OSTM1):c.*2773G>A rs886060959 0.00003
NM_014028.4(OSTM1):c.*2990T>C rs376154345 0.00003
NM_014028.4(OSTM1):c.325G>A (p.Val109Met) rs1456427265 0.00003
NM_014028.4(OSTM1):c.*1844T>G rs1270573422 0.00002
NM_014028.4(OSTM1):c.279C>T (p.Asn93=) rs542761263 0.00002
NM_014028.4(OSTM1):c.558A>G (p.Thr186=) rs150309395 0.00002
NM_014028.4(OSTM1):c.*1023A>G rs886060967 0.00001
NM_014028.4(OSTM1):c.*1045T>C rs1175025828 0.00001
NM_014028.4(OSTM1):c.*1399T>A rs886060966 0.00001
NM_014028.4(OSTM1):c.*1455C>T rs528241865 0.00001
NM_014028.4(OSTM1):c.*1469G>A rs886060965 0.00001
NM_014028.4(OSTM1):c.*872T>C rs748365107 0.00001
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2487T>A rs981097901
NM_014028.4(OSTM1):c.*262C>G rs1771931979
NM_014028.4(OSTM1):c.*2707C>T rs1771876396
NM_014028.4(OSTM1):c.*2858A>G rs534652017
NM_014028.4(OSTM1):c.*291A>G rs886060970
NM_014028.4(OSTM1):c.*3280T>C rs1771868120
NM_014028.4(OSTM1):c.*778T>G rs756978751
NM_014028.4(OSTM1):c.*873A>G rs886060969
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) rs369188843
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.950-12T>C rs886060972

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.