ClinVar Miner

List of variants reported as pathogenic for Emery-Dreifuss muscular dystrophy 2, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005572.3(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_005572.3(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_005572.3(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_005572.3(LMNA):c.936+2T>C rs797045011
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_170707.2(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.3(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.3(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.3(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.3(LMNA):c.1445G>A (p.Arg482Gln) rs11575937
NM_170707.3(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.3(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.3(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.3(LMNA):c.1608+5G>C rs267607539
NM_170707.3(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.3(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.3(LMNA):c.513+45T>G rs878853220
NM_170707.3(LMNA):c.624_626delGAA (p.Lys208del) rs267607540
NM_170707.3(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.3(LMNA):c.810+1G>C rs267607632
NM_170707.3(LMNA):c.94_96delAAG (p.Lys32del) rs60872029

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