List of variants in gene EMD studied for Emery-Dreifuss muscular dystrophy 1, X-linked

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: 26

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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.470G>A (p.Arg157Gln)	rs148515772	0.00009
NM_000117.3(EMD):c.454C>T (p.Arg152Cys)	rs376456050	0.00006
NM_000117.3(EMD):c.671C>T (p.Pro224Leu)	rs782559230	0.00003
NM_000117.3(EMD):c.422C>T (p.Ser141Phe)	rs1262954618	0.00002
NM_000117.3(EMD):c.610C>T (p.Arg204Cys)	rs782299893	0.00002
NM_000117.3(EMD):c.103G>A (p.Glu35Lys)	rs782222974	0.00001
NM_000117.3(EMD):c.400G>A (p.Val134Met)	rs201250825	0.00001
NM_000117.3(EMD):c.403C>T (p.His135Tyr)	rs782110153	0.00001
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del)	rs782507902
NM_000117.3(EMD):c.116_143del (p.Phe39fs)	rs1569552080
NM_000117.3(EMD):c.161C>T (p.Ser54Phe)
NM_000117.3(EMD):c.251_255del (p.Leu84fs)	rs782452523
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.321G>T (p.Glu107Asp)
NM_000117.3(EMD):c.441C>A (p.Cys147Ter)
NM_000117.3(EMD):c.450-2A>G	rs398123158
NM_000117.3(EMD):c.455G>A (p.Arg152His)
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys)	rs2067884177
NM_000117.3(EMD):c.524G>A (p.Ser175Asn)
NM_000117.3(EMD):c.553T>C (p.Ser185Pro)
NM_000117.3(EMD):c.571A>G (p.Met191Val)	rs397515752
NM_000117.3(EMD):c.60del (p.Asn20fs)	rs886041854
NM_000117.3(EMD):c.610C>G (p.Arg204Gly)	rs782299893
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.82+3A>G

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