ClinVar Miner

List of variants in gene SLC5A2 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_003041.3(SLC5A2):c.500delA (p.Gln167Argfs) rs267607067
NM_003041.4(SLC5A2):c.127-16C>A rs398122801
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) rs1555496083
NM_003041.4(SLC5A2):c.1320G>A (p.Trp440Ter) rs121918621
NM_003041.4(SLC5A2):c.1435C>G (p.Arg479Gly) rs387906682
NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr) rs886037850
NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu) rs398122802
NM_003041.4(SLC5A2):c.885+5G>A rs200228142

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