ClinVar Miner

List of variants in gene EMD reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 53
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HGVS dbSNP
NM_000117.2(EMD):c.-7A>C rs797044612
NM_000117.2(EMD):c.115_117del (p.Phe39del) rs781959238
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.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.168C>T (p.Ala56=) rs782087009
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.215A>T (p.Asp72Val) rs794729021
NM_000117.2(EMD):c.239_240insT (p.Glu80fs) rs398123155
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.266-2A>G rs727503036
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
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.355C>A (p.Gln119Lys) rs398123157
NM_000117.2(EMD):c.355C>T (p.Gln119Ter) rs398123157
NM_000117.2(EMD):c.385G>A (p.Ala129Thr) rs782768362
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.408T>C (p.Asp136=) rs1569552096
NM_000117.2(EMD):c.423T>G (p.Ser141=) rs1209782193
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.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.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.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.484C>T (p.Gln162Ter) rs1557182611
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.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.548C>T (p.Pro183Leu) rs104894805
NM_000117.2(EMD):c.549T>C (p.Pro183=) rs886044848
NM_000117.2(EMD):c.562A>C (p.Thr188Pro) rs1557182639
NM_000117.2(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
NM_000117.2(EMD):c.704T>C (p.Phe235Ser) rs782627156
NM_000117.2(EMD):c.82+4C>A rs376569563

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