ClinVar Miner

List of variants in gene 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: 18
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HGVS dbSNP
NM_002103.5(GYS1):c.-125C>T rs2287754
NM_002103.5(GYS1):c.-182T>G rs2287755
NM_002103.5(GYS1):c.-19C>A rs2287753
NM_002103.5(GYS1):c.1026C>T (p.Phe342=) rs5464
NM_002103.5(GYS1):c.1246A>G (p.Met416Val) rs5447
NM_002103.5(GYS1):c.1545A>G (p.Thr515=) rs5448
NM_002103.5(GYS1):c.1549+7G>A rs5449
NM_002103.5(GYS1):c.1749C>T (p.Ile583=) rs146698792
NM_002103.5(GYS1):c.207G>A (p.Thr69=) rs540438011
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677
NM_002103.5(GYS1):c.300+8G>A rs5454
NM_002103.5(GYS1):c.354C>T (p.Asp118=) rs374959862
NM_002103.5(GYS1):c.420A>G (p.Gly140=) rs5458
NM_002103.5(GYS1):c.492+9C>T rs191213443
NM_002103.5(GYS1):c.555C>T (p.Gly185=) rs2229612
NM_002103.5(GYS1):c.556G>A (p.Val186Ile) rs138330298
NM_002103.5(GYS1):c.693G>A (p.Lys231=) rs5460
NM_002103.5(GYS1):c.987C>T (p.Ala329=) rs180906371

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