ClinVar Miner

List of variants in gene EMD reported as pathogenic by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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NM_000117.2(EMD):c.121_155del (p.Tyr41fs) rs1557182286
NM_000117.2(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.2(EMD):c.187+1G>T rs794729010
NM_000117.2(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.2(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.2(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.2(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.2(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.2(EMD):c.82+1G>T rs1557182214

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