List of variants in gene EMD reported as pathogenic by Eurofins NTD LLC (GA)

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)	rs132630262
NM_000117.3(EMD):c.239_240insT (p.Glu80fs)	rs398123155
NM_000117.3(EMD):c.251_255del (p.Leu84fs)	rs782452523
NM_000117.3(EMD):c.266-2A>G	rs727503036
NM_000117.3(EMD):c.355C>T (p.Gln119Ter)	rs398123157
NM_000117.3(EMD):c.3G>A (p.Met1Ile)	rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	rs1557182560
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.468_471del (p.Arg157fs)	rs1569552102
NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	rs1557182611
NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	rs886044901

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