List of variants in gene SLC2A1 reported as pathogenic by Eurofins NTD LLC (GA)

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1296C>A (p.Tyr432Ter)	rs75485205
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.680-11G>A	rs1259158687
NM_006516.4(SLC2A1):c.907dup (p.Val303fs)	rs80359837
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	rs121909739
NM_006516.4(SLC2A1):c.966_967del (p.Ser324fs)	rs886044287
NM_006516.4(SLC2A1):c.980_981del (p.Val327fs)	rs80359838
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825

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