ClinVar Miner

List of variants in gene EMD

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Gene type:
ClinVar version:
Total variants: 157
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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
NC_000023.11:g.154380021T>A
NM_000117.2(EMD):c.-248_*326dup1339
NM_000117.2(EMD):c.-24C>T rs958112509
NM_000117.2(EMD):c.-7A>C rs797044612
NM_000117.2(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.2(EMD):c.103G>A (p.Glu35Lys) rs782222974
NM_000117.2(EMD):c.103G>T (p.Glu35Ter) rs782222974
NM_000117.2(EMD):c.108G>A (p.Lys36=) rs1057521050
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.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.128C>G (p.Thr43Ser) rs1569552081
NM_000117.2(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.2(EMD):c.12C>T (p.Tyr4=) 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.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.153dup (p.Ser52fs) rs876661345
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.16del (p.Asp6fs) rs1569552076
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.184dup (p.Ser62fs) rs1557182317
NM_000117.2(EMD):c.187+1G>T rs794729010
NM_000117.2(EMD):c.188-13C>T rs782141516
NM_000117.2(EMD):c.188-18C>G rs376439797
NM_000117.2(EMD):c.188-4C>T rs1557182352
NM_000117.2(EMD):c.188-52G>A
NM_000117.2(EMD):c.188A>G (p.Asp63Gly) rs1557182355
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
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.215_216AT[3] (p.Met73fs) rs1557182364
NM_000117.2(EMD):c.229C>T (p.Pro77Ser) rs1557182365
NM_000117.2(EMD):c.239_240insT (p.Glu80fs) rs398123155
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.251_255del (p.Leu84fs) rs782452523
NM_000117.2(EMD):c.266-19C>T rs1057522166
NM_000117.2(EMD):c.266-2A>G rs727503036
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.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000117.2(EMD):c.295T>C (p.Tyr99His) rs781835089
NM_000117.2(EMD):c.315T>C (p.Tyr105=) rs1342409944
NM_000117.2(EMD):c.330T>C (p.Ser110=) rs782666989
NM_000117.2(EMD):c.333C>T (p.Ala111=) rs782216150
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.355C>T (p.Gln119Ter) 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.396C>A (p.His132Gln) rs145985318
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.399+18C>T rs182540760
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.400-14A>G rs781916367
NM_000117.2(EMD):c.400-20G>A rs782354948
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.400-9_400-8delCT rs1427015192
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.419T>A (p.Leu140Ter) rs1057524848
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.430G>T (p.Glu144Ter) rs1557182560
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.444G>A (p.Lys148=) rs781889750
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
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.459C>T (p.Pro153=)
NM_000117.2(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.2(EMD):c.465C>T (p.Tyr155=) rs143447675
NM_000117.2(EMD):c.466G>A (p.Gly156Ser) rs144594695
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.468_471del (p.Arg157fs) rs1569552102
NM_000117.2(EMD):c.46_82+6del rs1557182198
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.2(EMD):c.489C>T (p.Ser163=) rs782558454
NM_000117.2(EMD):c.494C>T (p.Thr165Met) rs397515751
NM_000117.2(EMD):c.495G>A (p.Thr165=) rs151074632
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.512C>A (p.Ser171Ter) rs886044901
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.547C>A (p.Pro183Thr) rs104894806
NM_000117.2(EMD):c.548C>A (p.Pro183His) rs104894805
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.571A>G (p.Met191Val) rs397515752
NM_000117.2(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.2(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.2(EMD):c.598T>C (p.Trp200Arg) rs374981936
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.2(EMD):c.608G>A (p.Arg203His) rs144842093
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
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.621del (p.Pro208fs) rs1557182670
NM_000117.2(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.650_654dupTGGGC rs730880352
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.674_678del (p.Leu225fs) rs1557182692
NM_000117.2(EMD):c.702C>T (p.Val234=) rs1057521076
NM_000117.2(EMD):c.703_704insA (p.Phe235fs) rs1557182708
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.711C>T (p.Ile237=) 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+1G>T rs1557182214
NM_000117.2(EMD):c.82+4C>A rs376569563
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000117.2(EMD):c.83-13C>G rs201140396
NM_000117.2(EMD):c.83-2A>G rs727504901
NM_000117.2(EMD):c.83G>A (p.Gly28Glu) rs781978021
NM_000117.3(EMD):c.352C>T (p.Arg118Cys)

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