ClinVar Miner

List of variants in gene ALG12 reported as benign for ALG12-CDG

Included ClinVar conditions (1):
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Gene type:
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Total variants: 20
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HGVS dbSNP
NM_024105.4(ALG12):c.*240G>A rs76848348
NM_024105.4(ALG12):c.*280G>A rs116765369
NM_024105.4(ALG12):c.*51A>G rs1321
NM_024105.4(ALG12):c.-141T>C rs9616378
NM_024105.4(ALG12):c.-203G>A rs9616379
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848
NM_024105.4(ALG12):c.465T>C (p.Pro155=) rs201564211
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668
NM_024105.4(ALG12):c.664+12A>G rs9616204
NM_024105.4(ALG12):c.664+9G>C rs9616368
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124
NM_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654

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