ClinVar Miner

List of variants in gene SLC2A2 reported as pathogenic for Fanconi-Bickel syndrome

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Total variants: 23
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HGVS dbSNP
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.1051del (p.Val351fs)
NM_000340.2(SLC2A2):c.109-2A>G rs1576838294
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro) rs121909747
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_000340.2(SLC2A2):c.1259G>A (p.Trp420Ter) rs121909745
NM_000340.2(SLC2A2):c.1268T>A (p.Val423Glu) rs28928874
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.497-2A>G
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter) rs121909746
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743
NM_000340.2(SLC2A2):c.963+1G>A rs371977235
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414
SLC2A2, 1-BP DEL
SLC2A2, 1-BP INS, 793C
SLC2A2, 1264G-A
SLC2A2, 469C-T

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