ClinVar Miner

List of variants in gene EMD reported by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.266-2A>G rs727503036
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000117.2(EMD):c.465C>T (p.Tyr155=) rs143447675
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.571A>G (p.Met191Val) rs397515752
NM_000117.2(EMD):c.57C>T (p.Tyr19=) rs371661299
NM_000117.2(EMD):c.598T>C (p.Trp200Arg) rs374981936
NM_000117.2(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000117.2(EMD):c.650_654dupTGGGC rs730880352
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.77T>C (p.Val26Ala) rs727505029
NM_000117.2(EMD):c.83-13C>G rs201140396
NM_000117.2(EMD):c.83-2A>G rs727504901

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