ClinVar Miner

List of variants reported as likely benign for Spondylocostal dysostosis 3, autosomal recessive

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ClinVar version:
Total variants: 106
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HGVS dbSNP gnomAD frequency
NM_001040167.2(LFNG):c.667G>A (p.Val223Ile) rs142596712 0.00128
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_001040167.2(LFNG):c.573C>T (p.Ser191=) rs139864844 0.00046
NM_001040167.2(LFNG):c.735+9C>T rs202171160 0.00043
NM_001040167.2(LFNG):c.723C>T (p.Ser241=) rs115678269 0.00033
NM_001040167.2(LFNG):c.672C>T (p.Tyr224=) rs151012354 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_001040167.2(LFNG):c.480G>A (p.Thr160=) rs151053753 0.00009
NM_001040167.2(LFNG):c.581+9G>T rs202046384 0.00009
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_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_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_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_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=)

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