ClinVar Miner

List of variants in gene LMNA reported by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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Gene type:
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00011
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_170707.4(LMNA):c.1038C>T (p.Ala346=) rs1019030652 0.00002
NM_170707.4(LMNA):c.1755C>T (p.Thr585=) rs545752475 0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 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.1880G>A (p.Arg627His) rs745997478 0.00001
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) rs987157491 0.00001
NM_170707.4(LMNA):c.660C>T (p.Arg220=) rs1225454840 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys) rs1651446094 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.1024G>A (p.Glu342Lys) rs1651558432
NM_170707.4(LMNA):c.1032dup (p.Met345fs)
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro) rs397517891
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1364_1365del (p.Arg455fs) rs1651642668
NM_170707.4(LMNA):c.1381-6C>A rs371635492
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn) rs1250355311
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys) rs28928900
NM_170707.4(LMNA):c.230T>A (p.Ile77Asn) rs876657850
NM_170707.4(LMNA):c.274C>G (p.Leu92Val) rs267607560
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.572T>G (p.Val191Gly) rs752087253
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.631T>A (p.Tyr211Asn)
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr) rs769498020
NM_170707.4(LMNA):c.957G>A (p.Lys319=)
NM_170707.4(LMNA):c.991_992del (p.Arg331fs) rs1553265647

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