List of variants reported as uncertain significance for Emery-Dreifuss muscular dystrophy 5, autosomal dominant by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_182914.3(SYNE2):c.16550A>G (p.Glu5517Gly)	rs765353232	0.00001
NM_182914.3(SYNE2):c.20537C>T (p.Pro6846Leu)	rs1323584158	0.00001
NM_182914.3(SYNE2):c.18005G>T (p.Arg6002Leu)	rs764566778
NM_182914.3(SYNE2):c.4959C>A (p.Asn1653Lys)	rs2096903791
NM_182914.3(SYNE2):c.5359C>A (p.Gln1787Lys)	rs2096938300

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