ClinVar Miner

List of variants in gene LMNA studied for Congenital muscular dystrophy, LMNA-related

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Total variants: 43
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HGVS dbSNP
NM_001282625.1(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_005572.3(LMNA):c.*103C>T rs1057516022
NM_005572.3(LMNA):c.*36G>A rs557334569
NM_005572.3(LMNA):c.-109G>T rs886045360
NM_005572.3(LMNA):c.-128T>C rs80356803
NM_005572.3(LMNA):c.-138T>C rs886045359
NM_005572.3(LMNA):c.-142C>A rs886045358
NM_005572.3(LMNA):c.-183C>A rs886045357
NM_005572.3(LMNA):c.-210T>C rs886045356
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_005572.3(LMNA):c.-226C>T rs886045354
NM_005572.3(LMNA):c.-5C>A rs886045362
NM_005572.3(LMNA):c.-62C>A rs886045361
NM_005572.3(LMNA):c.-88G>T rs115800510
NM_005572.3(LMNA):c.113T>A (p.Leu38His)
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1381-2A>G rs267607600
NM_005572.3(LMNA):c.1391T>A (p.Met464Lys)
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_005572.3(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_005572.3(LMNA):c.514-11C>T rs886045365
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005572.3(LMNA):c.936+12C>T rs199881992
NM_005572.3(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.3(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.703C>A (p.Arg235Ser)
NM_170707.3(LMNA):c.810+13G>T rs11264444
NM_170707.3(LMNA):c.811-13T>A rs80356809
NM_170707.3(LMNA):c.91_93delGAG (p.Glu31del) rs864309525
NM_170707.3(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) rs60872029

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