List of variants studied for GNE myopathy by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr)	rs748949603	0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg)	rs776384541	0.00002
NM_005476.7(GNE):c.829C>T (p.Arg277Cys)	rs762106720	0.00002
NM_005476.7(GNE):c.4G>T (p.Glu2Ter)	rs886044514	0.00001
NM_005476.7(GNE):c.1655A>G (p.His552Arg)	rs2489605258
NM_005476.7(GNE):c.1768T>A (p.Tyr590Asn)	rs2133006452
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)	rs765173992
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_005476.7(GNE):c.392T>C (p.Leu131Pro)	rs2489788749
NM_005476.7(GNE):c.605G>C (p.Arg202Pro)	rs752650334
NM_005476.7(GNE):c.878A>G (p.His293Arg)	rs2489716585
NM_005476.7(GNE):c.893T>C (p.Ile298Thr)	rs757091387

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