List of variants in gene SLC2A1 reported as likely pathogenic for not provided

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: 40

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.1373G>A (p.Arg458Gln)	rs752143706	0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	rs267607061	0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)	rs80359815	0.00001
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.865G>A (p.Ala289Thr)	rs796053252	0.00001
NM_006516.4(SLC2A1):c.1148C>T (p.Pro383Leu)	rs1057521632
NM_006516.4(SLC2A1):c.1154C>T (p.Pro385Leu)	rs1553155891
NM_006516.4(SLC2A1):c.1229_1234del (p.Ser410_Asn411del)	rs1553155880
NM_006516.4(SLC2A1):c.1234T>C (p.Trp412Arg)	rs1570590859
NM_006516.4(SLC2A1):c.1256G>T (p.Gly419Val)	rs139722450
NM_006516.4(SLC2A1):c.1271del (p.Tyr424fs)	rs2124446193
NM_006516.4(SLC2A1):c.1279-2A>G	rs2124445695
NM_006516.4(SLC2A1):c.1279C>T (p.Gln427Ter)	rs1553155843
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)	rs864309522
NM_006516.4(SLC2A1):c.1373G>C (p.Arg458Pro)
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)	rs267607059
NM_006516.4(SLC2A1):c.292_306del (p.Met98_Leu102del)	rs2124450429
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.398_399delinsTT (p.Cys133Phe)	rs1553156161
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)	rs1057518953
NM_006516.4(SLC2A1):c.417del (p.Phe139fs)
NM_006516.4(SLC2A1):c.426G>T (p.Met142Ile)	rs2124450183
NM_006516.4(SLC2A1):c.482A>G (p.Gln161Arg)	rs1553156154
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)	rs1345986424
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg)	rs1085308009
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro)	rs2124449372
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)	rs1057521967
NM_006516.4(SLC2A1):c.631C>T (p.Pro211Ser)	rs796053247
NM_006516.4(SLC2A1):c.643C>T (p.Leu215Phe)	rs1570592813
NM_006516.4(SLC2A1):c.679+5G>T	rs771386274
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)	rs387907313
NM_006516.4(SLC2A1):c.707A>T (p.Asp236Val)	rs796053249
NM_006516.4(SLC2A1):c.731T>G (p.Met244Arg)	rs1064795363
NM_006516.4(SLC2A1):c.741G>C (p.Glu247Asp)	rs80359821
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)	rs2124448824
NM_006516.4(SLC2A1):c.884C>A (p.Thr295Lys)	rs80359823
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.982G>T (p.Val328Leu)	rs796053255

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