ClinVar Miner

List of variants reported as benign for Emery-Dreifuss muscular dystrophy by Illumina Laboratory Services, Illumina

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
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.-88G>T rs115800510
NM_182961.4(SYNE1):c.*666_*667del rs71660056
NM_182961.4(SYNE1):c.11581-15dup rs5880967

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