ClinVar Miner

List of variants in gene LMNA reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
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.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu) rs747717293 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) rs769561386 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) rs267607634
NM_170707.4(LMNA):c.1117A>T (p.Ile373Phe) rs1553265739
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) rs267607576
NM_170707.4(LMNA):c.1235G>A (p.Gly412Glu) rs1553265847
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp) rs61282106
NM_170707.4(LMNA):c.1396A>G (p.Asn466Asp) rs2102893640
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn) rs59981161
NM_170707.4(LMNA):c.1488+5G>C rs267607543
NM_170707.4(LMNA):c.151T>C (p.Ser51Pro) rs1649717627
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg) rs57629361
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) rs780302064
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr) rs267607547
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly) rs56793579
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.790_792del (p.Glu264del) rs1553265369
NM_170707.4(LMNA):c.810+2T>C rs2102882192
NM_170707.4(LMNA):c.810+4C>G rs780196737
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) rs1553265433
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) rs1553265436
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.917T>C (p.Leu306Pro) rs730882262
NM_170707.4(LMNA):c.937-7C>A rs267607681
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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