List of variants in gene EMD reported as benign for muscle tissue disorder

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: 25

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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.83-13C>G	rs201140396	0.00292
NM_000117.3(EMD):c.399+18C>T	rs182540760	0.00199
NM_000117.3(EMD):c.466G>A (p.Gly156Ser)	rs144594695	0.00078
NM_000117.3(EMD):c.396C>T (p.His132=)	rs145985318	0.00077
NM_000117.3(EMD):c.639T>C (p.Pro213=)	rs782196388	0.00021
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.432A>G (p.Glu144=)	rs377125466	0.00014
NM_000117.3(EMD):c.537G>A (p.Leu179=)	rs368661339	0.00014
NM_000117.3(EMD):c.400-14A>G	rs781916367	0.00007
NM_000117.3(EMD):c.188-12C>T	rs371016049	0.00006
NM_000117.3(EMD):c.746A>G (p.Glu249Gly)	rs781947413	0.00005
NM_000117.3(EMD):c.581C>T (p.Ser194Leu)	rs782697057	0.00004
NM_000117.3(EMD):c.400-20G>A	rs782354948	0.00003
NM_000117.3(EMD):c.618C>T (p.Ile206=)	rs782496874	0.00002
NM_000117.3(EMD):c.177T>C (p.Tyr59=)
NM_000117.3(EMD):c.187+20G>A
NM_000117.3(EMD):c.266-35_266-18dup	rs200992013
NM_000117.3(EMD):c.266-9dup
NM_000117.3(EMD):c.400-13CT[2]	rs1427015192
NM_000117.3(EMD):c.449+11G>C
NM_000117.3(EMD):c.620G>C (p.Arg207Pro)	rs782352489

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