ClinVar Miner

List of variants reported as pathogenic for autosomal dominant Emery-Dreifuss muscular dystrophy by OMIM

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_005572.3(LMNA):c.959delT (p.Arg321Glufs) rs56771886
NM_024334.2(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.621_623GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248

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