ClinVar Miner

List of variants reported as pathogenic for developmental and epileptic encephalopathy by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser) rs587784299 0.00001
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter) rs1195818093 0.00001
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.602+1G>A
NM_001271.4(CHD2):c.361C>T (p.Arg121Ter) rs397514740
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505

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