ClinVar Miner

List of variants in gene GNPTG studied for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 176
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HGVS dbSNP gnomAD frequency
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) rs7187001 0.00332
NM_032520.5(GNPTG):c.*68G>T rs60000415 0.00280
NM_032520.5(GNPTG):c.450T>G (p.His150Gln) rs147109185 0.00252
NM_032520.5(GNPTG):c.318-18G>A rs148378749 0.00190
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_032520.5(GNPTG):c.814A>G (p.Arg272Gly) rs8062558 0.00128
NM_032520.5(GNPTG):c.161A>T (p.Asp54Val) rs368478807 0.00079
NM_032520.5(GNPTG):c.183C>T (p.Pro61=) rs140264422 0.00061
NM_032520.5(GNPTG):c.684C>G (p.Thr228=) rs150965148 0.00060
NM_032520.5(GNPTG):c.477C>T (p.Tyr159=) rs201168011 0.00050
NM_032520.5(GNPTG):c.702T>C (p.Pro234=) rs532275192 0.00044
NM_032520.5(GNPTG):c.525A>C (p.Leu175=) rs144136497 0.00043
NM_032520.5(GNPTG):c.741+6G>A rs371060844 0.00043
NM_032520.5(GNPTG):c.857C>T (p.Thr286Met) rs193302860 0.00043
NM_032520.5(GNPTG):c.903G>A (p.Leu301=) rs141807632 0.00043
NM_032520.5(GNPTG):c.603C>T (p.Thr201=) rs146171435 0.00038
NM_032520.5(GNPTG):c.472G>A (p.Val158Ile) rs138018487 0.00036
NM_032520.5(GNPTG):c.264C>T (p.Asn88=) rs145313679 0.00034
NM_032520.5(GNPTG):c.*27C>T rs189677035 0.00029
NM_032520.5(GNPTG):c.527-8G>A rs374454359 0.00028
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) rs190614894 0.00014
NM_032520.5(GNPTG):c.551T>A (p.Leu184Gln) rs773290124 0.00014
NM_032520.5(GNPTG):c.837G>A (p.Leu279=) rs61739427 0.00013
NM_032520.5(GNPTG):c.510C>T (p.His170=) rs202240106 0.00011
NM_032520.5(GNPTG):c.479C>T (p.Ala160Val) rs374470431 0.00010
NM_032520.5(GNPTG):c.557G>A (p.Arg186Gln) rs139997459 0.00010
NM_032520.5(GNPTG):c.887G>A (p.Arg296Gln) rs561640998 0.00010
NM_032520.5(GNPTG):c.113T>C (p.Val38Ala) rs372379104 0.00009
NM_032520.5(GNPTG):c.295A>G (p.Asn99Asp) rs143383133 0.00009
NM_032520.5(GNPTG):c.713G>A (p.Gly238Glu) rs202080062 0.00009
NM_032520.5(GNPTG):c.130C>G (p.Pro44Ala) rs771564346 0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.489C>T (p.Phe163=) rs370857842 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_032520.5(GNPTG):c.394C>T (p.Arg132Trp) rs200741370 0.00007
NM_032520.5(GNPTG):c.548C>T (p.Ala183Val) rs759248626 0.00006
NM_032520.5(GNPTG):c.289C>T (p.Arg97Cys) rs753385216 0.00005
NM_032520.5(GNPTG):c.234-6C>T rs200003910 0.00004
NM_032520.5(GNPTG):c.254C>T (p.Pro85Leu) rs747362604 0.00004
NM_032520.5(GNPTG):c.412-14C>T rs528538033 0.00004
NM_032520.5(GNPTG):c.439C>T (p.Arg147Trp) rs775985395 0.00004
NM_032520.5(GNPTG):c.610-2A>G rs193302855 0.00004
NM_032520.5(GNPTG):c.642G>A (p.Glu214=) rs774108877 0.00004
NM_032520.5(GNPTG):c.665C>G (p.Pro222Arg) rs142548931 0.00004
NM_032520.5(GNPTG):c.696A>G (p.Gly232=) rs746160240 0.00004
NM_032520.5(GNPTG):c.166T>A (p.Ser56Thr) rs889922749 0.00003
NM_032520.5(GNPTG):c.234-8G>T rs369333639 0.00003
NM_032520.5(GNPTG):c.366G>C (p.Trp122Cys) rs757394606 0.00003
NM_032520.5(GNPTG):c.486G>A (p.Thr162=) rs377651982 0.00003
NM_032520.5(GNPTG):c.532C>T (p.Pro178Ser) rs553046300 0.00003
NM_032520.5(GNPTG):c.609+10C>T rs544780390 0.00003
NM_032520.5(GNPTG):c.631A>T (p.Thr211Ser) rs112925416 0.00003
NM_032520.5(GNPTG):c.660G>A (p.Lys220=) rs764405882 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032520.5(GNPTG):c.765G>A (p.Glu255=) rs762958864 0.00003
NM_032520.5(GNPTG):c.204G>A (p.Ser68=) rs777517766 0.00002
NM_032520.5(GNPTG):c.233C>T (p.Thr78Met) rs200507633 0.00002
NM_032520.5(GNPTG):c.263A>G (p.Asn88Ser) rs775604993 0.00002
NM_032520.5(GNPTG):c.388C>T (p.Arg130Cys) rs761584357 0.00002
NM_032520.5(GNPTG):c.440G>A (p.Arg147Gln) rs374890181 0.00002
NM_032520.5(GNPTG):c.591T>G (p.Asp197Glu) rs927888758 0.00002
NM_032520.5(GNPTG):c.*34G>A rs775046997 0.00001
NM_032520.5(GNPTG):c.*62G>A rs2034969990 0.00001
NM_032520.5(GNPTG):c.145C>T (p.Leu49Phe) rs1343539436 0.00001
NM_032520.5(GNPTG):c.160G>A (p.Asp54Asn) rs901250980 0.00001
NM_032520.5(GNPTG):c.196C>T (p.Arg66Ter) rs193302848 0.00001
NM_032520.5(GNPTG):c.233+1G>A rs376679416 0.00001
NM_032520.5(GNPTG):c.297C>T (p.Asn99=) rs201045559 0.00001
NM_032520.5(GNPTG):c.316G>A (p.Gly106Ser) rs137852885 0.00001
NM_032520.5(GNPTG):c.411+4G>A rs751575030 0.00001
NM_032520.5(GNPTG):c.478G>A (p.Ala160Thr) rs756971692 0.00001
NM_032520.5(GNPTG):c.527-10G>A rs1336176104 0.00001
NM_032520.5(GNPTG):c.538C>G (p.Leu180Val) rs776105074 0.00001
NM_032520.5(GNPTG):c.609+7G>A rs201419201 0.00001
NM_032520.5(GNPTG):c.683C>T (p.Thr228Ile) rs754489307 0.00001
NM_032520.5(GNPTG):c.823G>C (p.Glu275Gln) rs1391028440 0.00001
NM_032520.5(GNPTG):c.838G>A (p.Glu280Lys) rs756430172 0.00001
NM_032520.5(GNPTG):c.843dup (p.His284fs) rs2034958641 0.00001
NM_032520.5(GNPTG):c.901C>T (p.Leu301=) rs754236475 0.00001
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032520.4(GNPTG):c.611delG rs193302856
NM_032520.5(GNPTG):c.*107ACAAA[1] rs886051685
NM_032520.5(GNPTG):c.110+1G>A rs1555450716
NM_032520.5(GNPTG):c.110+1G>C rs1555450716
NM_032520.5(GNPTG):c.119A>G (p.Asn40Ser) rs2034698570
NM_032520.5(GNPTG):c.138C>T (p.Ala46=) rs538632263
NM_032520.5(GNPTG):c.178+2T>C rs1555450744
NM_032520.5(GNPTG):c.178+9G>C rs2034699941
NM_032520.5(GNPTG):c.179-1G>A rs988175540
NM_032520.5(GNPTG):c.179-3C>T rs2034884159
NM_032520.5(GNPTG):c.179G>A (p.Gly60Glu) rs2141861695
NM_032520.5(GNPTG):c.190_193dup (p.Phe65fs) rs2141861740
NM_032520.5(GNPTG):c.203C>T (p.Ser68Leu) rs552402857
NM_032520.5(GNPTG):c.216_217del (p.Phe72fs)
NM_032520.5(GNPTG):c.218G>A (p.Ser73Asn) rs769323972
NM_032520.5(GNPTG):c.233+1G>T rs376679416
NM_032520.5(GNPTG):c.233+2T>A rs1555451608
NM_032520.5(GNPTG):c.233+2T>C rs1555451608
NM_032520.5(GNPTG):c.233+5G>A rs1060499691
NM_032520.5(GNPTG):c.234-1G>A rs112850896
NM_032520.5(GNPTG):c.237C>A (p.Tyr79Ter)
NM_032520.5(GNPTG):c.238A>T (p.Lys80Ter)
NM_032520.5(GNPTG):c.242_243del (p.Lys80_Tyr81insTer) rs1555451643
NM_032520.5(GNPTG):c.269C>T (p.Thr90Ile) rs149197775
NM_032520.5(GNPTG):c.276C>G (p.His92Gln) rs201992413
NM_032520.5(GNPTG):c.318-10G>A rs777991598
NM_032520.5(GNPTG):c.318-1G>A rs193302847
NM_032520.5(GNPTG):c.318-1G>C rs193302847
NM_032520.5(GNPTG):c.318-28_351del rs2034895916
NM_032520.5(GNPTG):c.318C>T (p.Gly106=) rs770716391
NM_032520.5(GNPTG):c.324G>A (p.Trp108Ter) rs1060499690
NM_032520.5(GNPTG):c.327C>G (p.His109Gln) rs141533972
NM_032520.5(GNPTG):c.328G>T (p.Glu110Ter) rs763678034
NM_032520.5(GNPTG):c.333G>A (p.Trp111Ter) rs137852884
NM_032520.5(GNPTG):c.339C>A (p.Ile113=) rs147048228
NM_032520.5(GNPTG):c.339C>T (p.Ile113=) rs147048228
NM_032520.5(GNPTG):c.344A>C (p.Asn115Thr) rs138297609
NM_032520.5(GNPTG):c.344ACA[1] (p.Asn116del) rs193302849
NM_032520.5(GNPTG):c.373G>T (p.Asp125Tyr) rs1281782195
NM_032520.5(GNPTG):c.379_391del (p.Asp127fs) rs193302850
NM_032520.5(GNPTG):c.412-1G>C rs1555451866
NM_032520.5(GNPTG):c.421G>A (p.Ala141Thr) rs2034904624
NM_032520.5(GNPTG):c.445del (p.Ala149fs) rs281864956
NM_032520.5(GNPTG):c.477C>G (p.Tyr159Ter)
NM_032520.5(GNPTG):c.478_479insTAGG (p.Ala160fs) rs753596034
NM_032520.5(GNPTG):c.479C>A (p.Ala160Glu) rs374470431
NM_032520.5(GNPTG):c.523dup (p.Leu175fs) rs193302851
NM_032520.5(GNPTG):c.551_556del (p.Leu184_Gln185del) rs1555451962
NM_032520.5(GNPTG):c.562T>C (p.Trp188Arg) rs1596615005
NM_032520.5(GNPTG):c.574G>C (p.Glu192Gln) rs749314645
NM_032520.5(GNPTG):c.583del (p.Leu195fs)
NM_032520.5(GNPTG):c.597G>C (p.Leu199=) rs112266724
NM_032520.5(GNPTG):c.599_600insG (p.Ile200fs)
NM_032520.5(GNPTG):c.607dup (p.Gln203fs) rs756225251
NM_032520.5(GNPTG):c.608_609insC (p.Gln203fs) rs1555451988
NM_032520.5(GNPTG):c.609+1G>C rs1260510628
NM_032520.5(GNPTG):c.609+28_610-16del rs193302853
NM_032520.5(GNPTG):c.610-1G>A
NM_032520.5(GNPTG):c.610-1G>T rs193302854
NM_032520.5(GNPTG):c.619_620insT (p.Lys207fs) rs193302857
NM_032520.5(GNPTG):c.638_639del (p.Leu212_Phe213insTer) rs193302858
NM_032520.5(GNPTG):c.639del (p.Phe213fs) rs193302858
NM_032520.5(GNPTG):c.640_667del (p.Glu214fs) rs193302859
NM_032520.5(GNPTG):c.658A>T (p.Lys220Ter) rs2034926616
NM_032520.5(GNPTG):c.660_671del (p.Thr221_Glu224del) rs1555452031
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032520.5(GNPTG):c.691G>T (p.Glu231Ter)
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter) rs2141864418
NM_032520.5(GNPTG):c.740A>G (p.Lys247Arg) rs747594923
NM_032520.5(GNPTG):c.742-1G>A rs373976323
NM_032520.5(GNPTG):c.750dup (p.Glu251fs) rs758242017
NM_032520.5(GNPTG):c.751G>T (p.Glu251Ter) rs1555452081
NM_032520.5(GNPTG):c.773G>A (p.Arg258Lys) rs751017354
NM_032520.5(GNPTG):c.781G>A (p.Gly261Ser) rs371200622
NM_032520.5(GNPTG):c.798C>G (p.His266Gln) rs375787769
NM_032520.5(GNPTG):c.798C>T (p.His266=) rs375787769
NM_032520.5(GNPTG):c.802A>C (p.Ile268Leu) rs759796840
NM_032520.5(GNPTG):c.806C>A (p.Pro269His) rs1596616485
NM_032520.5(GNPTG):c.814_816del (p.Arg272del) rs1555452112
NM_032520.5(GNPTG):c.823+1G>T rs1385935677
NM_032520.5(GNPTG):c.824-39_824-13del rs1555452124
NM_032520.5(GNPTG):c.828_830dup (p.Ser277dup) rs1555452152
NM_032520.5(GNPTG):c.835T>G (p.Leu279Val) rs886051684
NM_032520.5(GNPTG):c.836T>A (p.Leu279Ter) rs1555452155
NM_032520.5(GNPTG):c.853G>T (p.Glu285Ter) rs772723751
NM_032520.5(GNPTG):c.862A>C (p.Arg288=) rs200471078
NM_032520.5(GNPTG):c.862_874del (p.Arg288fs) rs1555452172
NM_032520.5(GNPTG):c.867_880del (p.Lys290fs) rs1555452169
NM_032520.5(GNPTG):c.868A>T (p.Lys290Ter) rs751864147
NM_032520.5(GNPTG):c.868_869del (p.Lys290fs) rs1555452178
NM_032520.5(GNPTG):c.873_878dup (p.Pro292_Glu293insAspPro) rs775705721
NM_032520.5(GNPTG):c.877G>A (p.Glu293Lys) rs2034963316
NM_032520.5(GNPTG):c.880C>T (p.Gln294Ter) rs780260521
NM_032520.5(GNPTG):c.893_894del (p.Asp298fs) rs1555452195

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