ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031

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