List of variants reported as likely pathogenic for Childhood onset GLUT1 deficiency syndrome 2

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)	rs780519584	0.00001
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)	rs2124446500
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)	rs1570590528
NM_006516.4(SLC2A1):c.152G>C (p.Arg51Pro)	rs201815571
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)	rs1643481875
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)	rs80359816
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)	rs2124449089
NM_006516.4(SLC2A1):c.742_743del (p.Arg249fs)	rs2524992538
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)	rs2124448826
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)	rs2524990045
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)	rs80359824
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)	rs794727870
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)	rs1553155986

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