ClinVar Miner

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

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Total variants: 8
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HGVS dbSNP
NM_005572.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_005572.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745

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