ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 13
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HGVS dbSNP
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720
NM_024105.4(ALG12):c.469+13C>T rs78916708
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380
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.867C>T (p.His289=) rs147801200
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781

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