ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 7 by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter) rs2145922320
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val)
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.926C>T (p.Ala309Val)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719

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