ClinVar Miner

List of variants in gene EMD reported as uncertain significance

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Total variants: 80
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HGVS dbSNP
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.2(EMD):c.-7A>C rs797044612
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) rs782222974
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.128C>G (p.Thr43Ser) rs1569552081
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.149C>A (p.Pro50His) rs782021157
NM_000117.2(EMD):c.166G>A (p.Ala56Thr) rs1057520579
NM_000117.2(EMD):c.167C>T (p.Ala56Val) rs781840855
NM_000117.2(EMD):c.168C>T (p.Ala56=) rs782087009
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) rs1557182355
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.229C>T (p.Pro77Ser) rs1557182365
NM_000117.2(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000117.2(EMD):c.243C>T (p.Asp81=) rs150757295
NM_000117.2(EMD):c.267C>G (p.Gly89=) rs1201464258
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.276C>T (p.Asp92=) rs782680849
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.359C>T (p.Ser120Leu) rs782038352
NM_000117.2(EMD):c.385G>A (p.Ala129Thr) rs782768362
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.400G>A (p.Val134Met) rs201250825
NM_000117.2(EMD):c.406G>C (p.Asp136His) rs869025401
NM_000117.2(EMD):c.408T>C (p.Asp136=) rs1569552096
NM_000117.2(EMD):c.412G>A (p.Asp138Asn)
NM_000117.2(EMD):c.423T>G (p.Ser141=) rs1209782193
NM_000117.2(EMD):c.427_429delTCT
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.432A>G (p.Glu144=) rs377125466
NM_000117.2(EMD):c.436G>A (p.Glu146Lys) rs782732591
NM_000117.2(EMD):c.449+10G>C rs782467790
NM_000117.2(EMD):c.449+4C>G rs886044810
NM_000117.2(EMD):c.449+4C>T rs886044810
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.460A>G (p.Met154Val) rs782806462
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.494C>T (p.Thr165Met) rs397515751
NM_000117.2(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.2(EMD):c.502C>T (p.Arg168Cys) rs886044839
NM_000117.2(EMD):c.503G>A (p.Arg168His)
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.2(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.2(EMD):c.549T>C (p.Pro183=) rs886044848
NM_000117.2(EMD):c.559T>C (p.Ser187Pro) rs794729012
NM_000117.2(EMD):c.562A>C (p.Thr188Pro) rs1557182639
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>G (p.Arg204Gly) rs782299893
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.65C>T (p.Pro22Leu) rs794729017
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
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.711C>G (p.Ile237Met) rs727503037
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.759C>G (p.Pro253=) rs1569552110
NM_000117.2(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.2(EMD):c.82+4C>A rs376569563
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.352C>T (p.Arg118Cys)

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