ClinVar Miner

List of variants reported as likely benign for Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_182961.4(SYNE1):c.11970G>A (p.Leu3990=) rs960254266
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.14115C>T (p.Ala4705=) rs377739292
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684
NM_182961.4(SYNE1):c.17118A>G (p.Leu5706=) rs1194006323
NM_182961.4(SYNE1):c.18072C>T (p.Leu6024=) rs749375364
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768
NM_182961.4(SYNE1):c.20070G>A (p.Thr6690=) rs141263831
NM_182961.4(SYNE1):c.20553C>T (p.Ala6851=) rs969664934
NM_182961.4(SYNE1):c.20730G>C (p.Leu6910=) rs367864272
NM_182961.4(SYNE1):c.20898A>G (p.Thr6966=) rs766515787
NM_182961.4(SYNE1):c.21879G>A (p.Leu7293=) rs749164483
NM_182961.4(SYNE1):c.22347-9T>A rs535951024
NM_182961.4(SYNE1):c.22495-17dup rs767966157
NM_182961.4(SYNE1):c.23406A>G (p.Lys7802=) rs780485635
NM_182961.4(SYNE1):c.23919G>A (p.Thr7973=) rs767628258
NM_182961.4(SYNE1):c.4884G>A (p.Glu1628=) rs886042121
NM_182961.4(SYNE1):c.5421+9del rs774622835
NM_182961.4(SYNE1):c.7797C>G (p.Ser2599=) rs748909185
NM_182961.4(SYNE1):c.7977C>A (p.Thr2659=) rs1032522783
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005

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