ClinVar Miner

List of variants reported as pathogenic for Fanconi-Bickel syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.901C>T (p.Arg301Ter) rs121909743 0.00004
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742 0.00002
NM_000340.2(SLC2A2):c.963+1G>A rs371977235 0.00001
NC_000003.11:g.(?_170727727)_(170727891_?)del
NC_000003.11:g.(?_170732238)_(170732540_?)del
NM_000340.2(SLC2A2):c.1170+1G>T rs1294679246
NM_000340.2(SLC2A2):c.1183del (p.Trp395fs)
NM_000340.2(SLC2A2):c.1280del (p.Phe427fs) rs1386374799
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter) rs1715182989
NM_000340.2(SLC2A2):c.1392T>A (p.Tyr464Ter)
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del) rs763620441
NM_000340.2(SLC2A2):c.497-2A>G rs1318756243
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.666_667del (p.Gly223fs)
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter) rs773581866
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414

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