ClinVar Miner

List of variants in gene EMD reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000117.2(EMD):c.103G>T (p.Glu35Ter) rs782222974
NM_000117.2(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.2(EMD):c.419T>A (p.Leu140Ter) rs1057524848
NM_000117.2(EMD):c.60del (p.Asn20fs) rs886041854

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