ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753

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