ClinVar Miner

List of variants in gene LMNA reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
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.1566C>T (p.Cys522=) rs149339264 0.00123
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.1584G>A (p.Thr528=) rs80356812 0.00029
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
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.1488+14C>T rs377700689 0.00013
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.1770C>T (p.Thr590=) rs397517896 0.00006
NM_170707.4(LMNA):c.1803C>T (p.Ser601=) rs267607604 0.00005
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1699-7T>C rs771074100 0.00003
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00003
NM_170707.4(LMNA):c.-1C>A rs886043355 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1190G>A (p.Arg397His) rs747952058 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1719G>A (p.Ser573=) rs759853354 0.00002
NM_170707.4(LMNA):c.1755C>T (p.Thr585=) rs545752475 0.00002
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser) rs752598065 0.00002
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys) rs370134870 0.00002
NM_170707.4(LMNA):c.867C>T (p.His289=) rs780415585 0.00002
NM_005572.4(LMNA):c.1715G>A (p.Arg572His) rs1158300738 0.00001
NM_170707.4(LMNA):c.*710G>A rs1651961022 0.00001
NM_170707.4(LMNA):c.1182C>T (p.Thr394=) rs1409406468 0.00001
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys) rs727504852 0.00001
NM_170707.4(LMNA):c.1304G>A (p.Arg435His) rs1263919141 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1764C>T (p.Cys588=) rs759016336 0.00001
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg) rs372201662 0.00001
NM_170707.4(LMNA):c.1785C>T (p.Ala595=) rs748139390 0.00001
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser) rs1064797121 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.*694A>G
NM_170707.4(LMNA):c.1100T>G (p.Leu367Arg) rs2102888093
NM_170707.4(LMNA):c.1146C>A (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly) rs1448774273
NM_170707.4(LMNA):c.1157+1G>C
NM_170707.4(LMNA):c.1179T>C (p.Pro393=) rs1651603737
NM_170707.4(LMNA):c.122G>A (p.Arg41His) rs1060502215
NM_170707.4(LMNA):c.122G>C (p.Arg41Pro) rs1060502215
NM_170707.4(LMNA):c.1339G>A (p.Glu447Lys) rs1572364642
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1366A>G (p.Asn456Asp) rs267607599
NM_170707.4(LMNA):c.138C>T (p.Ile46=) rs1553261914
NM_170707.4(LMNA):c.1516C>T (p.His506Tyr) rs267607565
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.158A>G (p.Glu53Gly) rs60290646
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1770C>G (p.Thr590=) rs397517896
NM_170707.4(LMNA):c.1968+130C>T
NM_170707.4(LMNA):c.1968+3G>A rs1250284097
NM_170707.4(LMNA):c.1968+62G>T
NM_170707.4(LMNA):c.1968+80G>T
NM_170707.4(LMNA):c.1969-130C>A
NM_170707.4(LMNA):c.528A>G (p.Leu176=)
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.836A>G (p.Glu279Gly) rs2102883279
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_170707.4(LMNA):c.992G>C (p.Arg331Pro) rs59301204

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