ClinVar Miner

List of variants in gene EMD reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_000117.3(EMD):c.*59G>C rs17426 0.18669
NM_000117.3(EMD):c.*60C>T rs17427 0.17955
NM_000117.3(EMD):c.188-52G>A rs184469118 0.01725
NM_000117.3(EMD):c.-134A>G rs111878670 0.00566
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000117.3(EMD):c.399+64T>C rs72616475 0.00207
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000117.3(EMD):c.399+49G>A rs187060390 0.00102
NM_000117.3(EMD):c.466G>A (p.Gly156Ser) rs144594695 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000117.3(EMD):c.639T>C (p.Pro213=) rs782196388 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_000117.3(EMD):c.432A>G (p.Glu144=) rs377125466 0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00014
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000117.3(EMD):c.188-18C>G rs376439797 0.00009
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-14A>G rs781916367 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.108G>A (p.Lys36=) rs1057521050 0.00005
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.525C>T (p.Ser175=) rs782367505 0.00005
NM_000117.3(EMD):c.746A>G (p.Glu249Gly) rs781947413 0.00005
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000117.3(EMD):c.459C>T (p.Pro153=) rs782147479 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.400-20G>A rs782354948 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu) rs782559230 0.00003
NM_000117.3(EMD):c.-24C>T rs958112509 0.00002
NM_000117.3(EMD):c.188-13C>T rs782141516 0.00002
NM_000117.3(EMD):c.241G>A (p.Asp81Asn) rs141138209 0.00002
NM_000117.3(EMD):c.333C>T (p.Ala111=) rs782216150 0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys) rs782299893 0.00002
NM_000117.3(EMD):c.618C>T (p.Ile206=) rs782496874 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000117.3(EMD):c.266-19C>T rs1057522166 0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met) rs201250825 0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys) rs782732591 0.00001
NM_000117.3(EMD):c.444G>A (p.Lys148=) rs781889750 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.702C>T (p.Val234=) rs1057521076 0.00001
NM_000117.3(EMD):c.*88AGGGGC[1] rs1191128249
NM_000117.3(EMD):c.-161CAACGATTCGGCTGTGACGCGA[1] rs1463296648
NM_000117.3(EMD):c.103G>T (p.Glu35Ter) rs782222974
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.115_117del (p.Phe39del) rs781959238
NM_000117.3(EMD):c.124G>A (p.Glu42Lys) rs1557182291
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.188-4C>T rs1557182352
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.20T>A (p.Leu7His) rs794729016
NM_000117.3(EMD):c.266-2A>G rs727503036
NM_000117.3(EMD):c.266-35_266-18dup rs200992013
NM_000117.3(EMD):c.266G>A (p.Gly89Asp) rs2148128462
NM_000117.3(EMD):c.396C>A (p.His132Gln) rs145985318
NM_000117.3(EMD):c.400-13CT[2] rs1427015192
NM_000117.3(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.550A>C (p.Thr184Pro)
NM_000117.3(EMD):c.559T>C (p.Ser187Pro) rs794729012
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.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.3(EMD):c.65C>T (p.Pro22Leu) rs794729017
NM_000117.3(EMD):c.70G>A (p.Gly24Arg) rs727504628
NM_000117.3(EMD):c.73C>A (p.Pro25Thr) rs876661346

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