ClinVar Miner

List of variants reported as likely pathogenic for GLUT1 deficiency syndrome 1

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Total variants: 12
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NM_006516.3(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.3(SLC2A1):c.102T>G (p.Asn34Lys) rs1570601007
NM_006516.3(SLC2A1):c.1199_1200insGAG (p.Pro401_Ala402insSer) rs1570590905
NM_006516.3(SLC2A1):c.1234T>G (p.Trp412Gly) rs1570590859
NM_006516.3(SLC2A1):c.458G>T (p.Arg153Leu) rs794727642
NM_006516.3(SLC2A1):c.46_47insCTCCTCA (p.Val16fs) rs1570601060
NM_006516.3(SLC2A1):c.621_629del (p.Glu209_Pro211del) rs1557646075
NM_006516.3(SLC2A1):c.635G>A (p.Arg212His) rs886039517
NM_006516.3(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)

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