ClinVar Miner

List of variants reported as benign for ALG12-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
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.698G>A (p.Arg233Gln) rs114264124
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654

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