List of variants in gene SLC2A1 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)	rs753161833	0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His)	rs139412383	0.00001
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)	rs864309522
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.482A>G (p.Gln161Arg)	rs1553156154
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)	rs387907313
NM_006516.4(SLC2A1):c.884C>A (p.Thr295Lys)	rs80359823
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)	rs796053254

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