ClinVar Miner

List of variants in gene EMD reported as pathogenic

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Total variants: 42
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HGVS dbSNP
EMD, 1-BP DEL, FS236TER
EMD, 2-BP DEL, NT564
EMD, 2-BP INS, NT198
EMD, 29-BP DEL, NT113
EMD, 5-BP DEL, NT631
EMD, IVSAS, A-G, -3, 214-BP INS
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
NM_000117.2(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.2(EMD):c.103G>T (p.Glu35Ter) rs782222974
NM_000117.2(EMD):c.116_143del (p.Phe39fs) rs1569552080
NM_000117.2(EMD):c.121_155del (p.Tyr41fs) rs1557182286
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.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.2(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.2(EMD):c.184dup (p.Ser62fs) rs1557182317
NM_000117.2(EMD):c.187+1G>T rs794729010
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.239_240insT (p.Glu80fs) rs398123155
NM_000117.2(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.2(EMD):c.266-2A>G rs727503036
NM_000117.2(EMD):c.355C>T (p.Gln119Ter) rs398123157
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.450-2A>G rs398123158
NM_000117.2(EMD):c.468_471del (p.Arg157fs) rs1569552102
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.2(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.2(EMD):c.548C>A (p.Pro183His) rs104894805
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.650_654dupTGGGC rs730880352
NM_000117.2(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.2(EMD):c.82+1G>T rs1557182214

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