ClinVar Miner

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

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Total variants: 66
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HGVS dbSNP
NM_001282625.2(LMNA):c.-206-17C>T
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_005572.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_005572.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_005572.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_005572.4(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_005572.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901
NM_005572.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_005572.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_005572.4(LMNA):c.749C>T (p.Ala250Val) rs397517907
NM_005572.4(LMNA):c.810+13G>T rs11264444
NM_005572.4(LMNA):c.811-13T>A rs80356809
NM_005572.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.-109G>T rs886045360
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.-138T>C rs886045359
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-44T>A
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1139T>C (p.Leu380Ser) rs121912495
NM_170707.4(LMNA):c.113T>A (p.Leu38His) rs1558116084
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598
NM_170707.4(LMNA):c.1381-2A>G rs267607600
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys) rs1281896947
NM_170707.4(LMNA):c.1445G>T (p.Arg482Leu) rs11575937
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.1698+57G>A rs557334569
NM_170707.4(LMNA):c.1698+83G>A
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364
NM_170707.4(LMNA):c.356+12C>A
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_170707.4(LMNA):c.428C>T (p.Ser143Phe) rs58912633
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser) rs201227908
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.796A>G (p.Thr266Ala)
NM_170707.4(LMNA):c.91_93del (p.Glu31del) rs864309525
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.94A>G (p.Lys32Glu) rs1553261891
NM_170707.4(LMNA):c.94_96del (p.Lys32del) rs60872029
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300

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