ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 2, autosomal dominant by Athena Diagnostics Inc

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys) rs57629361
NM_170707.4(LMNA):c.695G>A (p.Gly232Glu) rs57207746
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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