ClinVar Miner

List of variants in gene OSTM1 reported as uncertain significance for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
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.*2517del rs886060961 0.00008
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.*1932dup rs74900179
NM_014028.4(OSTM1):c.*2276C>T rs546976371
NM_014028.4(OSTM1):c.*2351del rs886060962
NM_014028.4(OSTM1):c.*2364A>G rs60621815
NM_014028.4(OSTM1):c.*2370dup rs58798743
NM_014028.4(OSTM1):c.*2487T>A rs981097901
NM_014028.4(OSTM1):c.*2488del rs879213270
NM_014028.4(OSTM1):c.*2515_*2516del rs562640840
NM_014028.4(OSTM1):c.*2517_*2518del rs886060960
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

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