ClinVar Miner

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

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3:c.55_83del
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) rs121913649
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) rs122458140
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
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.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246

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