List of variants in gene EMD reported as uncertain significance by GeneDx

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.598T>C (p.Trp200Arg)	rs374981936	0.00011
NM_000117.3(EMD):c.166G>A (p.Ala56Thr)	rs1057520579	0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val)	rs794729021	0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)	rs398123157	0.00005
NM_000117.3(EMD):c.608G>A (p.Arg203His)	rs144842093	0.00004
NM_000117.3(EMD):c.110A>T (p.Lys37Met)	rs1085307681	0.00003
NM_000117.3(EMD):c.449+5G>A	rs370840449	0.00003
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	rs782559230	0.00003
NM_000117.3(EMD):c.241G>A (p.Asp81Asn)	rs141138209	0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)	rs782299893	0.00002
NM_000117.3(EMD):c.400G>A (p.Val134Met)	rs201250825	0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys)	rs782732591	0.00001
NM_000117.3(EMD):c.619C>T (p.Arg207Trp)	rs2067885563	0.00001
NM_000117.3(EMD):c.620G>A (p.Arg207Gln)	rs782352489	0.00001
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.115_117del (p.Phe39del)	rs781959238
NM_000117.3(EMD):c.124G>A (p.Glu42Lys)	rs1557182291
NM_000117.3(EMD):c.20T>A (p.Leu7His)	rs794729016
NM_000117.3(EMD):c.266G>A (p.Gly89Asp)	rs2148128462
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer)	rs794729019
NM_000117.3(EMD):c.550A>C (p.Thr184Pro)
NM_000117.3(EMD):c.559T>C (p.Ser187Pro)	rs794729012
NM_000117.3(EMD):c.576CTC[1] (p.Ser199del)	rs2067884874
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	rs782299893
NM_000117.3(EMD):c.65C>T (p.Pro22Leu)	rs794729017
NM_000117.3(EMD):c.70G>A (p.Gly24Arg)	rs727504628
NM_000117.3(EMD):c.73C>A (p.Pro25Thr)	rs876661346

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