ClinVar Miner

List of variants reported as likely benign for vertebral column disorder

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_001039958.2(MESP2):c.*326C>T rs76163582 0.01683
NM_001039958.2(MESP2):c.-11G>A rs139599055 0.00847
NM_001853.4(COL9A3):c.520-6C>T rs45476191 0.00844
NM_001853.4(COL9A3):c.309+11G>A rs146033082 0.00541
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962 0.00494
NM_001853.4(COL9A3):c.2010C>T (p.Ala670=) rs34911725 0.00408
NM_004608.4(TBX6):c.484G>A (p.Gly162Ser) rs56098093 0.00404
NM_203486.3(DLL3):c.409+61G>A rs377405105 0.00384
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_203486.3(DLL3):c.1307G>A (p.Arg436His) rs199831437 0.00317
NM_004608.4(TBX6):c.1010C>T (p.Pro337Leu) rs149105120 0.00295
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635 0.00162
NM_203486.3(DLL3):c.618C>T (p.Pro206=) rs192624990 0.00153
NM_203486.3(DLL3):c.352-15C>T rs201902809 0.00135
NM_001040167.2(LFNG):c.667G>A (p.Val223Ile) rs142596712 0.00128
NM_203486.3(DLL3):c.63C>T (p.Leu21=) rs146255899 0.00109
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys) rs553583384 0.00089
NM_001039958.2(MESP2):c.859C>T (p.Pro287Ser) rs201904631 0.00069
NM_203486.3(DLL3):c.153C>T (p.Ser51=) rs373980582 0.00061
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu) rs758148689 0.00053
NM_001040167.2(LFNG):c.1021C>T (p.Arg341Trp) rs147110861 0.00051
NM_001040167.2(LFNG):c.312C>T (p.Arg104=) rs552455490 0.00050
NM_203486.3(DLL3):c.1356C>T (p.Val452=) rs554268445 0.00050
NM_001040167.2(LFNG):c.573C>T (p.Ser191=) rs139864844 0.00046
NM_001040167.2(LFNG):c.735+9C>T rs202171160 0.00043
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532 0.00034
NM_001040167.2(LFNG):c.723C>T (p.Ser241=) rs115678269 0.00033
NM_001853.4(COL9A3):c.346-19C>T rs199940406 0.00029
NM_001039958.2(MESP2):c.357G>C (p.Leu119=) rs575410954 0.00026
NM_001039958.2(MESP2):c.355C>T (p.Leu119=) rs373605220 0.00020
NM_203486.3(DLL3):c.*38A>G rs200982994 0.00018
NM_001039958.2(MESP2):c.183C>T (p.Ser61=) rs753168674 0.00016
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001040167.2(LFNG):c.672C>T (p.Tyr224=) rs151012354 0.00012
NM_203486.3(DLL3):c.870+12C>G rs180859782 0.00012
NM_001040167.2(LFNG):c.653C>T (p.Pro218Leu) rs148460430 0.00011
NM_001040167.2(LFNG):c.546C>T (p.Ala182=) rs369411514 0.00010
NM_001039958.2(MESP2):c.168T>G (p.Pro56=) rs894593728 0.00009
NM_001040167.2(LFNG):c.480G>A (p.Thr160=) rs151053753 0.00009
NM_001040167.2(LFNG):c.581+9G>T rs202046384 0.00009
NM_001039958.2(MESP2):c.18T>A (p.Pro6=) rs529998749 0.00008
NM_001040167.2(LFNG):c.402G>T (p.Leu134=) rs534958709 0.00007
NM_001040167.2(LFNG):c.609C>T (p.Asn203=) rs143930715 0.00007
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985 0.00006
NM_001040167.2(LFNG):c.1026C>T (p.Asn342=) rs756592084 0.00006
NM_001040167.2(LFNG):c.316C>T (p.Leu106=) rs761785878 0.00006
NM_001040167.2(LFNG):c.481+10G>C rs763736744 0.00006
NM_001040167.2(LFNG):c.696G>A (p.Arg232=) rs772432543 0.00006
NM_001040167.2(LFNG):c.988-11G>A rs199722773 0.00006
NM_001853.4(COL9A3):c.1548+8G>A rs376918493 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_001040167.2(LFNG):c.1053G>A (p.Ser351=) rs751281684 0.00005
NM_001040167.2(LFNG):c.567C>T (p.Ile189=) rs572875855 0.00004
NM_001040167.2(LFNG):c.594C>T (p.His198=) rs571692564 0.00004
NM_001040167.2(LFNG):c.600C>T (p.Asp200=) rs759542824 0.00004
NM_001040167.2(LFNG):c.736-15T>G rs199510750 0.00004
NM_203486.3(DLL3):c.409+19G>T rs201227250 0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=) rs138378695 0.00004
NM_001039958.2(MESP2):c.207G>T (p.Thr69=) rs571669966 0.00003
NM_001040167.2(LFNG):c.1059G>A (p.Glu353=) rs761502412 0.00003
NM_001040167.2(LFNG):c.6C>A (p.Leu2=) rs1390203183 0.00003
NM_001040167.2(LFNG):c.821+8C>T rs200827566 0.00003
NM_001040167.2(LFNG):c.822-5C>T rs373907631 0.00003
NM_001040167.2(LFNG):c.1032C>T (p.Val344=) rs748395052 0.00002
NM_001040167.2(LFNG):c.327G>T (p.Pro109=) rs376342763 0.00002
NM_001040167.2(LFNG):c.582-10T>C rs1249078709 0.00002
NM_001040167.2(LFNG):c.768C>T (p.Gly256=) rs113634524 0.00002
NM_001040167.2(LFNG):c.870C>T (p.Asp290=) rs757292451 0.00002
NM_001040167.2(LFNG):c.924C>T (p.Ser308=) rs765338425 0.00002
NM_001853.4(COL9A3):c.577-20G>A rs928285792 0.00002
NM_001039958.2(MESP2):c.669G>C (p.Pro223=) rs760409825 0.00001
NM_001039958.2(MESP2):c.885G>C (p.Thr295=) rs761196555 0.00001
NM_001040167.2(LFNG):c.1140G>A (p.Ter380=) rs1780013685 0.00001
NM_001040167.2(LFNG):c.213G>A (p.Val71=) rs1446332005 0.00001
NM_001040167.2(LFNG):c.357C>G (p.Val119=) rs764696423 0.00001
NM_001040167.2(LFNG):c.57C>T (p.Ala19=) rs1779736182 0.00001
NM_001040167.2(LFNG):c.736-18C>T rs375297351 0.00001
NM_001040167.2(LFNG):c.821+9C>T rs1223314866 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_203486.3(DLL3):c.138G>A (p.Pro46=) rs987371248 0.00001
NM_001039958.2(MESP2):c.1122C>A (p.Gly374=) rs765218369
NM_001039958.2(MESP2):c.237G>C (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.237G>T (p.Ala79=) rs775834437
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr) rs374604155
NM_001039958.2(MESP2):c.693C>T (p.Ala231=) rs901621478
NM_001039958.2(MESP2):c.957G>A (p.Ser319=) rs752665246
NM_001039958.2(MESP2):c.966T>G (p.Ala322=) rs768285654
NM_001040167.2(LFNG):c.1029C>G (p.Ala343=)
NM_001040167.2(LFNG):c.1029C>T (p.Ala343=)
NM_001040167.2(LFNG):c.102C>G (p.Pro34=)
NM_001040167.2(LFNG):c.1036G>A (p.Val346Met) rs71647813
NM_001040167.2(LFNG):c.1036G>C (p.Val346Leu) rs71647813
NM_001040167.2(LFNG):c.105C>T (p.Ala35=) rs1779738077
NM_001040167.2(LFNG):c.1062C>A (p.Ala354=)
NM_001040167.2(LFNG):c.1073+14G>A
NM_001040167.2(LFNG):c.1074-11T>C
NM_001040167.2(LFNG):c.1074-19C>T
NM_001040167.2(LFNG):c.1101C>T (p.Tyr367=)
NM_001040167.2(LFNG):c.123G>A (p.Ala41=)
NM_001040167.2(LFNG):c.126G>A (p.Leu42=)
NM_001040167.2(LFNG):c.183G>A (p.Ala61=)
NM_001040167.2(LFNG):c.204C>T (p.Val68=)
NM_001040167.2(LFNG):c.222G>C (p.Leu74=)
NM_001040167.2(LFNG):c.225C>A (p.Ser75=) rs1047044671
NM_001040167.2(LFNG):c.234C>T (p.Phe78=)
NM_001040167.2(LFNG):c.237C>T (p.Ser79=)
NM_001040167.2(LFNG):c.246C>T (p.Thr82=)
NM_001040167.2(LFNG):c.264G>A (p.Ala88=) rs1779745228
NM_001040167.2(LFNG):c.267C>T (p.Gly89=)
NM_001040167.2(LFNG):c.285C>G (p.Ala95=) rs1159608993
NM_001040167.2(LFNG):c.294C>T (p.Pro98=)
NM_001040167.2(LFNG):c.306C>T (p.His102=)
NM_001040167.2(LFNG):c.330C>G (p.Leu110=)
NM_001040167.2(LFNG):c.363C>T (p.Thr121=)
NM_001040167.2(LFNG):c.393C>T (p.Asp131=)
NM_001040167.2(LFNG):c.420C>G (p.Arg140=)
NM_001040167.2(LFNG):c.432+11C>G
NM_001040167.2(LFNG):c.432+12G>A rs2128375237
NM_001040167.2(LFNG):c.432+14G>A
NM_001040167.2(LFNG):c.432+16C>T
NM_001040167.2(LFNG):c.432+19G>T rs536716091
NM_001040167.2(LFNG):c.432+9C>T
NM_001040167.2(LFNG):c.433-12T>A
NM_001040167.2(LFNG):c.433-18C>T rs2128376861
NM_001040167.2(LFNG):c.481+16G>C
NM_001040167.2(LFNG):c.481+20C>T
NM_001040167.2(LFNG):c.482-16_482-13dup
NM_001040167.2(LFNG):c.482-17C>T
NM_001040167.2(LFNG):c.482-20A>G
NM_001040167.2(LFNG):c.486C>T (p.Asn162=)
NM_001040167.2(LFNG):c.501C>T (p.Asn167=)
NM_001040167.2(LFNG):c.528G>A (p.Ala176=)
NM_001040167.2(LFNG):c.549G>A (p.Val183=)
NM_001040167.2(LFNG):c.581+15G>T
NM_001040167.2(LFNG):c.581+18G>A
NM_001040167.2(LFNG):c.581+7G>A rs1428513145
NM_001040167.2(LFNG):c.637C>T (p.Leu213=)
NM_001040167.2(LFNG):c.654G>A (p.Pro218=)
NM_001040167.2(LFNG):c.661C>A (p.Arg221=) rs377387325
NM_001040167.2(LFNG):c.666C>T (p.Asp222=)
NM_001040167.2(LFNG):c.675C>T (p.Val225=)
NM_001040167.2(LFNG):c.735+10T>G rs2128377425
NM_001040167.2(LFNG):c.735+13C>T
NM_001040167.2(LFNG):c.735+18C>T
NM_001040167.2(LFNG):c.736-12C>T
NM_001040167.2(LFNG):c.736-15_736-13del rs750925231
NM_001040167.2(LFNG):c.741T>C (p.Pro247=)
NM_001040167.2(LFNG):c.747C>T (p.His249=)
NM_001040167.2(LFNG):c.765C>A (p.Gly255=)
NM_001040167.2(LFNG):c.765C>T (p.Gly255=)
NM_001040167.2(LFNG):c.780C>T (p.Cys260=)
NM_001040167.2(LFNG):c.813G>A (p.Pro271=)
NM_001040167.2(LFNG):c.822-18G>C
NM_001040167.2(LFNG):c.822-20del
NM_001040167.2(LFNG):c.822-4G>A
NM_001040167.2(LFNG):c.822-6C>A
NM_001040167.2(LFNG):c.843G>A (p.Thr281=) rs766719689
NM_001040167.2(LFNG):c.84G>T (p.Pro28=)
NM_001040167.2(LFNG):c.879C>T (p.Ile293=)
NM_001040167.2(LFNG):c.882C>T (p.Gly294=)
NM_001040167.2(LFNG):c.897C>T (p.Ala299=)
NM_001040167.2(LFNG):c.898C>T (p.Leu300=)
NM_001040167.2(LFNG):c.927C>T (p.Gly309=)
NM_001040167.2(LFNG):c.981C>T (p.His327=)
NM_001040167.2(LFNG):c.984G>A (p.Glu328=)
NM_001040167.2(LFNG):c.987+12T>C rs2128377847
NM_001040167.2(LFNG):c.987+15G>A
NM_001040167.2(LFNG):c.987+16_987+33del
NM_001040167.2(LFNG):c.987+17G>T
NM_001040167.2(LFNG):c.987+8A>G
NM_001040167.2(LFNG):c.993G>A (p.Thr331=)
NM_001853.4(COL9A3):c.792+19G>A rs115466848
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666

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