ClinVar Miner

List of variants in gene SLC2A2 reported as benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NC_000003.12:g.171027026T>C rs5396 0.38870
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398 0.38373
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400 0.23124
NM_000340.2(SLC2A2):c.496+8A>T rs5402 0.22868
NC_000003.12:g.171027131T>G rs5393 0.22748
NM_000340.2(SLC2A2):c.776-15C>T rs5406 0.21500
NM_000340.2(SLC2A2):c.*1222T>A rs55989805 0.21407
NM_000340.2(SLC2A2):c.*1257C>T rs55679742 0.20048
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404 0.15665
NC_000003.12:g.171027104G>A rs5394 0.15011
NM_000340.2(SLC2A2):c.*234C>A rs79424762 0.02686
NM_000340.2(SLC2A2):c.*909C>T rs77733690 0.01361
NM_000340.2(SLC2A2):c.1069-9T>C rs5407 0.01360
NM_000340.2(SLC2A2):c.*476T>C rs75975646 0.01358
NM_000340.2(SLC2A2):c.*356A>T rs7610064 0.01356
NM_000340.2(SLC2A2):c.*474A>G rs114710971 0.01147
NM_000340.2(SLC2A2):c.*920A>C rs56204521 0.01056
NM_000340.2(SLC2A2):c.*325T>A rs189555280 0.00832
NM_000340.2(SLC2A2):c.*1349C>T rs112957674 0.00770
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405 0.00373
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572 0.00061
NM_000340.2(SLC2A2):c.1556G>A (p.Gly519Glu) rs147959014 0.00052
NM_000340.2(SLC2A2):c.1402C>G (p.Leu468Val) rs140138702 0.00040
NM_000340.2(SLC2A2):c.963+14C>T rs189551647 0.00039
NM_000340.2(SLC2A2):c.216C>T (p.Tyr72=) rs139231189 0.00025
NM_000340.2(SLC2A2):c.*725G>C rs79770697
NM_000340.2(SLC2A2):c.1171-7del

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