List of variants in gene EMD studied for Cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000117.3(EMD):c.465C>T (p.Tyr155=)	rs143447675	0.00404
NM_000117.3(EMD):c.144C>T (p.Leu48=)	rs200537612	0.00315
NM_000117.3(EMD):c.396C>T (p.His132=)	rs145985318	0.00077
NM_000117.3(EMD):c.428C>T (p.Ser143Phe)	rs139983160	0.00020
NM_000117.3(EMD):c.445G>C (p.Asp149His)	rs2070818	0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)	rs137977232	0.00018
NM_000117.3(EMD):c.12C>T (p.Tyr4=)	rs782011714	0.00007
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)	rs398123157	0.00005
NM_000117.3(EMD):c.167C>T (p.Ala56Val)	rs781840855	0.00001
NM_000117.3(EMD):c.143T>G (p.Leu48Arg)	rs2148128160
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
NM_000117.3(EMD):c.266-10C>T	rs2067879183
NM_000117.3(EMD):c.352C>T (p.Arg118Cys)	rs781847968
NM_000117.3(EMD):c.562A>C (p.Thr188Pro)	rs1557182639
NM_000117.3(EMD):c.759C>G (p.Pro253=)	rs1569552110

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