ClinVar Miner

List of variants in gene EMD reported as pathogenic for Emery-Dreifuss muscular dystrophy 1, X-linked

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Total variants: 19
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NM_000117.2(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.2(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.2(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.2(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.215_216AT[3] (p.Met73fs) rs1557182364
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.2(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.2(EMD):c.82+1G>T rs1557182214
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)

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