ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 5

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014028.4(OSTM1):c.*331A>G rs9320250 0.41485
NM_014028.4(OSTM1):c.*1883T>C rs7662 0.33096
NM_014028.4(OSTM1):c.*2301A>G rs9386700 0.32980
NM_014028.4(OSTM1):c.*1407A>G rs12567 0.24864
NM_014028.4(OSTM1):c.*1038A>G rs1064346 0.24805
NM_014028.4(OSTM1):c.*2362A>G rs201149316 0.22949
NM_014028.4(OSTM1):c.*2283T>C rs112283202 0.09569
NM_014028.4(OSTM1):c.*2344C>G rs113263335 0.09290
NM_014028.4(OSTM1):c.*2329G>T rs112792700 0.08905
NM_014028.4(OSTM1):c.*2755A>G rs6921341 0.07269
NM_014028.4(OSTM1):c.*2547G>A rs111332944 0.05196
NM_014028.4(OSTM1):c.*1161G>A rs17069228 0.04528
NM_014028.4(OSTM1):c.*2887G>A rs41287526 0.03905
NM_014028.4(OSTM1):c.*2053C>T rs17069215 0.03750
NM_014028.4(OSTM1):c.*1352A>G rs9372179 0.03746
NM_014028.4(OSTM1):c.*1334T>C rs9374008 0.03745
NM_014028.4(OSTM1):c.*1574A>G rs41287528 0.03604
NM_014028.4(OSTM1):c.*1367G>A rs73504439 0.03564
NM_014028.4(OSTM1):c.207G>T (p.Gly69=) rs80219951 0.03550
NM_014028.4(OSTM1):c.156G>C (p.Leu52Phe) rs9480830 0.02937
NM_014028.4(OSTM1):c.*3329A>G rs112424495 0.02226
NM_014028.4(OSTM1):c.*3319T>G rs112919802 0.02222
NM_014028.4(OSTM1):c.221C>G (p.Pro74Arg) rs141735624 0.01817
NM_014028.4(OSTM1):c.*212A>G rs17069239 0.01518
NM_014028.4(OSTM1):c.*1427A>G rs116796449 0.01274
NM_014028.4(OSTM1):c.*1082G>A rs148730821 0.01114
NM_014028.4(OSTM1):c.*2138G>T rs115370044 0.00824
NM_014028.4(OSTM1):c.*355A>G rs61491262 0.00630
NM_014028.4(OSTM1):c.615+8A>G rs144204437 0.00220
NM_014028.4(OSTM1):c.*2366A>G rs564822548 0.00143
NM_014028.4(OSTM1):c.495A>G (p.Thr165=) rs137974384 0.00110
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.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_014028.4(OSTM1):c.*2317A>C rs527256747 0.00059
NM_014028.4(OSTM1):c.*3192A>C rs185905869 0.00058
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.49T>G (p.Trp17Gly) rs546399681 0.00028
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.198A>G (p.Gly66=) rs565610194 0.00015
NM_014028.4(OSTM1):c.300G>T (p.Gly100=) rs199570880 0.00014
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.-67G>T rs532210400 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.67C>T (p.Leu23=) rs886060973 0.00004
NM_014028.4(OSTM1):c.8C>T (p.Pro3Leu) rs752132846 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.960C>G (p.Leu320=) rs201793834 0.00001
NM_014028.4(OSTM1):c.*1007G>A rs1053299538
NM_014028.4(OSTM1):c.*2276C>A rs546976371
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.-52G>T rs886060974
NM_014028.4(OSTM1):c.280A>G (p.Ser94Gly) rs369188843
NM_014028.4(OSTM1):c.36T>A (p.Cys12Ter) rs119460973
NM_014028.4(OSTM1):c.415_416del (p.Gln140fs) rs794727287
NM_014028.4(OSTM1):c.486del (p.Phe162fs) rs1582396088
NM_014028.4(OSTM1):c.783+5G>T rs1554250938
NM_014028.4(OSTM1):c.784-10C>G rs753191662
NM_014028.4(OSTM1):c.796C>T (p.Arg266Ter) rs781715787
NM_014028.4(OSTM1):c.949+5G>A rs1562370077
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.