ClinVar Miner

List of variants in gene FTL, GYS1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
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.*421A>G rs181566066
NM_002103.5(GYS1):c.*450G>A rs3745693
NM_002103.5(GYS1):c.*611C>T rs370792196
NM_002103.5(GYS1):c.*659C>T rs367578611
NM_002103.5(GYS1):c.*725C>T rs1042265
NM_002103.5(GYS1):c.*841A>G rs75797604
NM_002103.5(GYS1):c.*868A>G rs571576339
NM_002103.5(GYS1):c.*908G>A rs117997270
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
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986

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