ClinVar Miner

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

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Total variants: 33
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HGVS dbSNP
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) rs782222974
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) rs1057520579
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.2(EMD):c.267C>G (p.Gly89=) rs1201464258
NM_000117.2(EMD):c.295T>C (p.Tyr99His) rs781835089
NM_000117.2(EMD):c.353G>A (p.Arg118His) rs782201984
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) rs398123157
NM_000117.2(EMD):c.400G>A (p.Val134Met) rs201250825
NM_000117.2(EMD):c.412G>A (p.Asp138Asn)
NM_000117.2(EMD):c.427_429delTCT
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.449+5G>A rs370840449
NM_000117.2(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.2(EMD):c.450-2A>G rs398123158
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.502C>T (p.Arg168Cys) rs886044839
NM_000117.2(EMD):c.503G>A (p.Arg168His)
NM_000117.2(EMD):c.598T>C (p.Trp200Arg) rs374981936
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) rs782299893
NM_000117.2(EMD):c.611G>A (p.Arg204His) rs782642152
NM_000117.2(EMD):c.620G>C (p.Arg207Pro)
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) rs782559230
NM_000117.2(EMD):c.704T>C (p.Phe235Ser) rs782627156
NM_000117.2(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.2(EMD):c.717_718delCT
NM_000117.2(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.2(EMD):c.746A>G (p.Glu249Gly) rs781947413
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) rs781978021

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