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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	rs142000963	0.00117
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	rs142191737	0.00025
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)	rs61094188	0.00015
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.350A>G (p.Lys117Arg)	rs397517901	0.00004
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln)	rs58105277	0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)	rs878855233	0.00003
NM_170707.4(LMNA):c.-1C>A	rs886043355	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.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.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.328C>A (p.Arg110Ser)	rs1064797121	0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=)	rs397517905	0.00001
NM_170707.4(LMNA):c.1100T>G (p.Leu367Arg)	rs2102888093
NM_170707.4(LMNA):c.1148A>G (p.Glu383Gly)	rs1448774273
NM_170707.4(LMNA):c.1339G>A (p.Glu447Lys)	rs1572364642
NM_170707.4(LMNA):c.1516C>T (p.His506Tyr)	rs267607565
NM_170707.4(LMNA):c.1968+130C>T
NM_170707.4(LMNA):c.1968+3G>A	rs1250284097
NM_170707.4(LMNA):c.1969-130C>A
NM_170707.4(LMNA):c.836A>G (p.Glu279Gly)	rs2102883279

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