ClinVar Miner

List of variants in gene EMD reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_000117.2(EMD):c.110A>T (p.Lys37Met) rs1085307681
NM_000117.2(EMD):c.115_117del (p.Phe39del) rs781959238
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) rs1057520579
NM_000117.2(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.2(EMD):c.215A>T (p.Asp72Val) rs794729021
NM_000117.2(EMD):c.355C>A (p.Gln119Lys) rs398123157
NM_000117.2(EMD):c.436G>A (p.Glu146Lys) rs782732591
NM_000117.2(EMD):c.449+5G>A rs370840449
NM_000117.2(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.2(EMD):c.559T>C (p.Ser187Pro) rs794729012
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.2(EMD):c.610C>T (p.Arg204Cys) rs782299893
NM_000117.2(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.2(EMD):c.671C>T (p.Pro224Leu) rs782559230

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