ClinVar Miner

List of variants studied for Lennox-Gastaut syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001271.4(CHD2):c.1613T>G (p.Ile538Arg) rs1567139944
NM_001271.4(CHD2):c.1805A>G (p.Asp602Gly) rs1567140845
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001271.4(CHD2):c.594G>C (p.Gln198His) rs374064833
NM_004408.4(DNM1):c.1872C>T (p.Gly624=) rs1367619284

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