ClinVar Miner

List of variants in gene LMNA reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.*6G>A rs397517885 0.00010
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.986G>A (p.Arg329His) rs397517913 0.00002
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala) rs876657849 0.00001
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys) rs397517892 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg) rs397517898 0.00001
NM_170707.4(LMNA):c.640-11A>C rs727504932 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.-12A>T rs1553261811
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1158-3C>T rs727503136
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro) rs397517891
NM_170707.4(LMNA):c.1442A>G (p.Tyr481Cys) rs397517893
NM_170707.4(LMNA):c.1748C>G (p.Ser583Trp) rs59601651
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.1969-1G>T rs1060499873
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.230T>C (p.Ile77Thr) rs876657850
NM_170707.4(LMNA):c.232A>G (p.Lys78Glu) rs876657851
NM_170707.4(LMNA):c.234G>C (p.Lys78Asn) rs727505038
NM_170707.4(LMNA):c.266G>A (p.Arg89His) rs59040894
NM_170707.4(LMNA):c.331G>C (p.Glu111Gln) rs61726475
NM_170707.4(LMNA):c.343_344delinsTT (p.Glu115Leu) rs727503134
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.643C>G (p.Leu215Val) rs397517905
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.739G>A (p.Glu247Lys) rs727504373
NM_170707.4(LMNA):c.860C>T (p.Ala287Val) rs397517910
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912

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