List of variants reported as likely benign for autosomal recessive spondylocostal dysostosis

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 147

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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_203486.3(DLL3):c.1384G>A (p.Ala462Thr)	rs182454962	0.00494
NM_203486.3(DLL3):c.409+61G>A	rs377405105	0.00384
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)	rs199831437	0.00317
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_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_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_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_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.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_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.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.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.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.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+16C>T
NM_001040167.2(LFNG):c.432+19G>T	rs536716091
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.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.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>T (p.Gly255=)
NM_001040167.2(LFNG):c.780C>T (p.Cys260=)
NM_001040167.2(LFNG):c.822-18G>C
NM_001040167.2(LFNG):c.822-20del
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.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+16_987+33del
NM_001040167.2(LFNG):c.987+17G>T
NM_001040167.2(LFNG):c.993G>A (p.Thr331=)
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	rs376905666

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