ClinVar Miner

List of variants studied for Fanconi-Bickel syndrome by Invitae

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Total variants: 45
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HGVS dbSNP
NC_000003.11:g.170744815T>C
NC_000003.11:g.170744893G>A
NC_000003.11:g.170744920T>G
NM_000340.2(SLC2A2):c.1069-10A>G rs1487335649
NM_000340.2(SLC2A2):c.1069-9T>C rs5407
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.1093C>T (p.Arg365Ter) rs121909742
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) rs140794946
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs)
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) rs546539032
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.239del (p.Pro80fs) rs769888108
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) rs1576833940
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
NM_000340.2(SLC2A2):c.496+10A>T rs5403
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000340.2(SLC2A2):c.496+8A>T rs5402
NM_000340.2(SLC2A2):c.497-2A>G
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys) rs149460434
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.625G>T (p.Glu209Ter) rs1114167428
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405
NM_000340.2(SLC2A2):c.708_711del (p.Phe237fs) rs1560035336
NM_000340.2(SLC2A2):c.775+1G>A rs756874949
NM_000340.2(SLC2A2):c.776-15C>T rs5406
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) rs371899639
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)
NM_000340.2(SLC2A2):c.963+1G>A rs371977235
NM_000340.2(SLC2A2):c.970dup (p.Tyr324fs) rs1560033414

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