ClinVar Miner

List of variants studied for Emery-Dreifuss muscular dystrophy 3, autosomal recessive

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_170707.4(LMNA):c.1304G>A (p.Arg435His)	rs1263919141	0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	rs11575937	0.00001
NM_170707.4(LMNA):c.357-3735G>A
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)	rs28928901
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)	rs199474724

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