ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_182914.3(SYNE2):c.20039G>A (p.Arg6680Gln) rs761684738 0.00003
NM_182914.3(SYNE2):c.15527A>T (p.Glu5176Val) rs1595828652

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