ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) rs1603270381

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