ClinVar Miner

List of variants reported as likely pathogenic for Lennox-Gastaut syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_001271.4(CHD2):c.1720-155_1727delinsT rs1596406306
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro) rs1596419511
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del) rs1596427937
NM_001271.4(CHD2):c.381+1G>A
NM_001271.4(CHD2):c.390C>T (p.Ser130=) rs1555437851
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe) rs1596456893
NM_001271.4(CHD2):c.692+1G>C rs1555439036
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn) rs1554767317
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu) rs1554781553
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg) rs1554772959

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