List of variants in gene SLC2A1 reported as pathogenic for Dystonia 9

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)	rs2124446490
NM_006516.4(SLC2A1):c.1141del (p.Val381fs)
NM_006516.4(SLC2A1):c.115-2A>C	rs2124450950
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)	rs796053263
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)	rs2124446305
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)	rs2124445661
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)	rs2124461926
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)	rs2124461913
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)	rs2124449452
NM_006516.4(SLC2A1):c.634C>T (p.Arg212Cys)	rs387907312
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)	rs2124449287
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)	rs2124449015
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	rs121909739
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)	rs796053254
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825

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