ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 4, autosomal dominant by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 14
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NM_182961.4(SYNE1):c.10070C>T (p.Pro3357Leu) rs748499952
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587
NM_182961.4(SYNE1):c.11429C>T (p.Thr3810Met) rs375577011
NM_182961.4(SYNE1):c.12115G>A (p.Val4039Ile) rs199774691
NM_182961.4(SYNE1):c.14902G>A (p.Ala4968Thr) rs745978878
NM_182961.4(SYNE1):c.15918-12A>G rs606231134
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806
NM_182961.4(SYNE1):c.19640G>A (p.Gly6547Asp) rs766241487
NM_182961.4(SYNE1):c.22493A>C (p.Glu7498Ala) rs774655615
NM_182961.4(SYNE1):c.26372C>T (p.Thr8791Met) rs567376316
NM_182961.4(SYNE1):c.3131G>A (p.Arg1044Gln) rs199888697
NM_182961.4(SYNE1):c.5230G>A (p.Glu1744Lys) rs540091060
NM_182961.4(SYNE1):c.6549G>C (p.Glu2183Asp) rs144797998
NM_182961.4(SYNE1):c.9953G>A (p.Ser3318Asn) rs746689638

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