ClinVar Miner

List of variants in gene SLC2A2 reported as uncertain significance for digestive system disorder

Included ClinVar conditions (605):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00076
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00035
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile) rs121909741 0.00009
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met) rs751917665 0.00009
NM_000340.2(SLC2A2):c.10G>C (p.Asp4His) rs200073044 0.00002
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly) rs780873643 0.00002
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790 0.00001
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln) rs1560035364 0.00001
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr) rs1293130515
NM_000340.2(SLC2A2):c.76T>C (p.Tyr26His) rs1716265568
NM_000340.2(SLC2A2):c.971A>G (p.Tyr324Cys) rs1715394753

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