List of variants in gene SLC2A1 reported as pathogenic for childhood onset GLUT1 deficiency syndrome 2

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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: 24

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	rs267607061	0.00001
NM_006516.4(SLC2A1):c.101A>G (p.Asn34Ser)	rs80359812
NM_006516.4(SLC2A1):c.101A>T (p.Asn34Ile)	rs80359812
NM_006516.4(SLC2A1):c.1028dup (p.Met344fs)	rs1643457017
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)	rs2124447951
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.19-2A>G	rs796053272
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)	rs202060209
NM_006516.4(SLC2A1):c.283_284delinsAT (p.Ser95Ile)	rs267607060
NM_006516.4(SLC2A1):c.293del (p.Met98fs)	rs1643481831
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	rs80359818
NM_006516.4(SLC2A1):c.493G>A (p.Val165Ile)	rs1057520545
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)	rs80359832
NM_006516.4(SLC2A1):c.667C>T (p.Arg223Trp)	rs796053248
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)	rs794729221
NM_006516.4(SLC2A1):c.736_739del (p.Glu246fs)	rs1570592604
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)	rs121909740
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)	rs2124448824
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)	rs1553156047
NM_006516.4(SLC2A1):c.876_878dup (p.Tyr293_Ser294insTyr)	rs2124448406
NM_006516.4(SLC2A1):c.940G>A (p.Gly314Ser)	rs121909739
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)	rs80359825
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986

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