ClinVar Miner

List of variants in gene combination FTL, GYS1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.*301G>A rs147489255
NM_002103.5(GYS1):c.*370A>C rs185366453
NM_002103.5(GYS1):c.*659C>T rs367578611
NM_002103.5(GYS1):c.*868A>G rs571576339
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986

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