List of variants in gene EMD reported as pathogenic by Molecular Diagnostics Lab, Nemours Children's Health, Delaware

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(?_154379237)_(154381523_?)del
NM_000117.3(EMD):c.121_155del (p.Tyr41fs)	rs1557182286
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	rs132630262
NM_000117.3(EMD):c.187+1G>T	rs794729010
NM_000117.3(EMD):c.251_255del (p.Leu84fs)	rs782452523
NM_000117.3(EMD):c.419T>A (p.Leu140Ter)	rs1057524848
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	rs886044901
NM_000117.3(EMD):c.621del (p.Pro208fs)	rs1557182670
NM_000117.3(EMD):c.674_678del (p.Leu225fs)	rs1557182692
NM_000117.3(EMD):c.82+1G>T	rs1557182214

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