ClinVar Miner

List of variants in gene EMD reported as likely pathogenic

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Total variants: 11
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HGVS dbSNP
NC_000023.11:g.154380021T>A
NM_000117.2(EMD):c.16del (p.Asp6fs) rs1569552076
NM_000117.2(EMD):c.284_298del (p.Tyr95_Tyr99del) rs398123156
NM_000117.2(EMD):c.46_82+6del rs1557182198
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000117.2(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.2(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.2(EMD):c.703_704insA (p.Phe235fs) rs1557182708
NM_000117.2(EMD):c.82G>A (p.Gly28Arg) rs1064797380
NM_000117.2(EMD):c.83-2A>G rs727504901

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