ClinVar Miner

List of variants in gene LMNA reported as likely benign for Charcot-Marie-Tooth disease

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Total variants: 27
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HGVS dbSNP
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
NM_170707.4(LMNA):c.1157+15C>T
NM_170707.4(LMNA):c.1157+19G>A rs757715731
NM_170707.4(LMNA):c.1261C>T (p.Leu421=) rs1194745110
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488+8G>A rs762836610
NM_170707.4(LMNA):c.1489-16C>G
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1699-8C>G rs727503137
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448
NM_170707.4(LMNA):c.1968+18dup
NM_170707.4(LMNA):c.1969-4T>C rs751715969
NM_170707.4(LMNA):c.486G>A (p.Leu162=) rs727503135
NM_170707.4(LMNA):c.572T>G (p.Val191Gly)
NM_170707.4(LMNA):c.579T>C (p.Ala193=) rs749728556
NM_170707.4(LMNA):c.810+12C>T rs746914371
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.937-7C>G rs267607681

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