ClinVar Miner

List of variants in gene EMD reported as uncertain significance for cardiomyopathy

Included ClinVar conditions (519):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 181
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000117.3(EMD):c.581C>T (p.Ser194Leu) rs782697057 0.00004
NM_000117.3(EMD):c.608G>A (p.Arg203His) rs144842093 0.00004
NM_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.267C>G (p.Gly89=) rs1201464258 0.00003
NM_000117.3(EMD):c.361G>A (p.Val121Met) rs2067880161 0.00003
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000117.3(EMD):c.412G>A (p.Asp138Asn) rs782737897 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000117.3(EMD):c.137G>A (p.Arg46Gln) rs941514119 0.00002
NM_000117.3(EMD):c.148C>T (p.Pro50Ser) rs781936763 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000117.3(EMD):c.353G>A (p.Arg118His) rs782201984 0.00002
NM_000117.3(EMD):c.422C>T (p.Ser141Phe) rs1262954618 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000117.3(EMD):c.632G>A (p.Arg211His) rs782596223 0.00002
NM_000117.3(EMD):c.704T>C (p.Phe235Ser) rs782627156 0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.167C>T (p.Ala56Val) rs781840855 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.295T>C (p.Tyr99His) rs781835089 0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu) rs782038352 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr) rs782110153 0.00001
NM_000117.3(EMD):c.406G>C (p.Asp136His) rs869025401 0.00001
NM_000117.3(EMD):c.423T>G (p.Ser141=) rs1209782193 0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys) rs782732591 0.00001
NM_000117.3(EMD):c.494C>T (p.Thr165Met) rs397515751 0.00001
NM_000117.3(EMD):c.542A>G (p.Tyr181Cys) rs1569552104 0.00001
NM_000117.3(EMD):c.557C>T (p.Ser186Phe) rs372718547 0.00001
NM_000117.3(EMD):c.575C>T (p.Ser192Phe) rs782393829 0.00001
NM_000117.3(EMD):c.593C>T (p.Ser198Phe) rs1569552105 0.00001
NM_000117.3(EMD):c.619C>T (p.Arg207Trp) rs2067885563 0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln) rs782352489 0.00001
NM_000117.3(EMD):c.631C>T (p.Arg211Cys) rs782193940 0.00001
NM_000117.3(EMD):c.728A>C (p.Tyr243Ser) rs782208090 0.00001
NC_000023.10:g.(?_153607835)_(153609567_?)dup
NM_000117.3(EMD):c.110A>G (p.Lys37Arg)
NM_000117.3(EMD):c.115_117del (p.Phe39del) rs781959238
NM_000117.3(EMD):c.118G>C (p.Glu40Gln) rs2067875036
NM_000117.3(EMD):c.121T>G (p.Tyr41Asp)
NM_000117.3(EMD):c.136C>T (p.Arg46Trp) rs2067875291
NM_000117.3(EMD):c.139C>T (p.Arg47Trp)
NM_000117.3(EMD):c.143T>G (p.Leu48Arg) rs2148128160
NM_000117.3(EMD):c.152C>G (p.Pro51Arg)
NM_000117.3(EMD):c.168CTC[1] (p.Ser58del)
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys) rs2148128196
NM_000117.3(EMD):c.180C>G (p.Ser60Arg) rs2067875771
NM_000117.3(EMD):c.187+4A>T rs2148128205
NM_000117.3(EMD):c.187+5G>C
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000117.3(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.3(EMD):c.192G>C (p.Leu64Phe) rs782066603
NM_000117.3(EMD):c.19C>T (p.Leu7Phe) rs2067873080
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
NM_000117.3(EMD):c.208G>T (p.Asp70Tyr) rs2148128314
NM_000117.3(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.3(EMD):c.218T>C (p.Met73Thr) rs2148128327
NM_000117.3(EMD):c.229C>T (p.Pro77Ser) rs1557182365
NM_000117.3(EMD):c.235A>G (p.Lys79Glu)
NM_000117.3(EMD):c.236A>G (p.Lys79Arg)
NM_000117.3(EMD):c.237A>C (p.Lys79Asn)
NM_000117.3(EMD):c.23C>G (p.Ser8Trp) rs869025400
NM_000117.3(EMD):c.23C>T (p.Ser8Leu) rs869025400
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
NM_000117.3(EMD):c.271A>G (p.Asn91Asp) rs2067879275
NM_000117.3(EMD):c.285T>C (p.Tyr95=) rs2148128483
NM_000117.3(EMD):c.307A>G (p.Arg103Gly)
NM_000117.3(EMD):c.317G>A (p.Gly106Glu) rs1312994862
NM_000117.3(EMD):c.31G>A (p.Glu11Lys) rs2148127965
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.32A>G (p.Glu11Gly)
NM_000117.3(EMD):c.334G>A (p.Gly112Ser)
NM_000117.3(EMD):c.343A>T (p.Arg115Trp) rs2067879939
NM_000117.3(EMD):c.350T>G (p.Val117Gly) rs781924971
NM_000117.3(EMD):c.352C>T (p.Arg118Cys) rs781847968
NM_000117.3(EMD):c.356A>G (p.Gln119Arg)
NM_000117.3(EMD):c.377A>G (p.Asp126Gly)
NM_000117.3(EMD):c.37A>C (p.Thr13Pro) rs2148127968
NM_000117.3(EMD):c.399G>C (p.Gln133His)
NM_000117.3(EMD):c.400-3C>T
NM_000117.3(EMD):c.406G>A (p.Asp136Asn) rs869025401
NM_000117.3(EMD):c.411C>G (p.Asp137Glu) rs2148128718
NM_000117.3(EMD):c.413A>G (p.Asp138Gly) rs1212579575
NM_000117.3(EMD):c.41C>A (p.Thr14Asn)
NM_000117.3(EMD):c.421TCT[2] (p.Ser143del) rs1557182551
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) rs2067882775
NM_000117.3(EMD):c.433G>A (p.Glu145Lys) rs2067882908
NM_000117.3(EMD):c.437A>G (p.Glu146Gly) rs2148128747
NM_000117.3(EMD):c.448A>G (p.Arg150Gly)
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.449G>C (p.Arg150Thr) rs1557182571
NM_000117.3(EMD):c.455G>A (p.Arg152His)
NM_000117.3(EMD):c.457C>T (p.Pro153Ser)
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.487A>G (p.Ser163Gly) rs1557182614
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.490A>G (p.Ile164Val)
NM_000117.3(EMD):c.497A>G (p.His166Arg) rs1016943599
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000117.3(EMD):c.503G>A (p.Arg168His) rs898460509
NM_000117.3(EMD):c.503G>T (p.Arg168Leu)
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.525C>G (p.Ser175Arg) rs782367505
NM_000117.3(EMD):c.52C>A (p.Arg18=) rs2148127991
NM_000117.3(EMD):c.533A>G (p.Asp178Gly) rs2067884448
NM_000117.3(EMD):c.534C>A (p.Asp178Glu)
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.547C>T (p.Pro183Ser) rs104894806
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000117.3(EMD):c.550_552del (p.Thr184del)
NM_000117.3(EMD):c.551C>T (p.Thr184Ile)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000117.3(EMD):c.562A>C (p.Thr188Pro) rs1557182639
NM_000117.3(EMD):c.571A>G (p.Met191Val) rs397515752
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del) rs2067884874
NM_000117.3(EMD):c.578C>T (p.Ser193Phe) rs1220835396
NM_000117.3(EMD):c.587C>G (p.Ser196Cys)
NM_000117.3(EMD):c.587C>T (p.Ser196Phe) rs781900414
NM_000117.3(EMD):c.599G>T (p.Trp200Leu)
NM_000117.3(EMD):c.59A>G (p.Asn20Ser)
NM_000117.3(EMD):c.605C>T (p.Thr202Ile)
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.618C>G (p.Ile206Met) rs782496874
NM_000117.3(EMD):c.620G>C (p.Arg207Pro) rs782352489
NM_000117.3(EMD):c.623C>G (p.Pro208Arg) rs987808355
NM_000117.3(EMD):c.631C>G (p.Arg211Gly) rs782193940
NM_000117.3(EMD):c.641G>C (p.Gly214Ala) rs2148128967
NM_000117.3(EMD):c.651G>A (p.Leu217=) rs2067885915
NM_000117.3(EMD):c.656A>G (p.Gln219Arg)
NM_000117.3(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.3(EMD):c.662G>A (p.Arg221His) rs782057378
NM_000117.3(EMD):c.667G>A (p.Val223Ile)
NM_000117.3(EMD):c.670C>T (p.Pro224Ser) rs1557182687
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
NM_000117.3(EMD):c.680_684del (p.Gly227fs) rs2148128987
NM_000117.3(EMD):c.683A>G (p.Gln228Arg)
NM_000117.3(EMD):c.684GCT[2] (p.Leu231del) rs2067886222
NM_000117.3(EMD):c.68_69delinsCT (p.His23Pro) rs2067873549
NM_000117.3(EMD):c.69C>G (p.His23Gln)
NM_000117.3(EMD):c.706G>A (p.Val236Met)
NM_000117.3(EMD):c.709A>G (p.Ile237Val) rs2148129009
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.70G>C (p.Gly24Arg)
NM_000117.3(EMD):c.712G>A (p.Val238Ile) rs782455914
NM_000117.3(EMD):c.715C>T (p.Leu239Phe) rs2067886585
NM_000117.3(EMD):c.717_718del (p.Phe240fs) rs1603366041
NM_000117.3(EMD):c.718TTC[1] (p.Phe241del) rs2148129019
NM_000117.3(EMD):c.725T>G (p.Ile242Ser) rs2067886717
NM_000117.3(EMD):c.730C>T (p.His244Tyr) rs2067886772
NM_000117.3(EMD):c.73C>A (p.Pro25Thr) rs876661346
NM_000117.3(EMD):c.74C>G (p.Pro25Arg) rs2067873634
NM_000117.3(EMD):c.74C>T (p.Pro25Leu) rs2067873634
NM_000117.3(EMD):c.759C>G (p.Pro253=) rs1569552110
NM_000117.3(EMD):c.762C>G (p.Phe254Leu)
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.82+3A>G
NM_000117.3(EMD):c.82+4C>A rs376569563
NM_000117.3(EMD):c.82+4C>T
NM_000117.3(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.82G>C (p.Gly28Arg) rs1064797380
NM_000117.3(EMD):c.83-6G>A
NM_000117.3(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.85T>C (p.Ser29Pro) rs2067874763
NM_000117.3(EMD):c.86C>T (p.Ser29Leu)
NM_000117.3(EMD):c.92G>C (p.Arg31Pro)
NM_000117.3(EMD):c.92G>T (p.Arg31Leu) rs2148128120
NM_000117.3(EMD):c.95G>C (p.Arg32Thr)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.