ClinVar Miner

List of variants studied for inborn disorder of serine family metabolism by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000481.4(AMT):c.602_603del (p.Lys201fs) rs1279743247

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