ClinVar Miner

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

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Gene type:
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Total variants: 11
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HGVS dbSNP
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.239_240insT (p.Glu80fs) rs398123155
NM_000117.2(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.2(EMD):c.266-2A>G rs727503036
NM_000117.2(EMD):c.355C>T (p.Gln119Ter) rs398123157
NM_000117.2(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.2(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.2(EMD):c.450-2A>G rs398123158
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.512C>A (p.Ser171Ter) rs886044901

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