ClinVar Miner

List of variants studied for benign neonatal seizures by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.1741C>T (p.Arg581Ter) rs118192236 0.00001
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_152296.5(ATP1A3):c.1115del (p.Thr372fs) rs2145972429
NM_172107.4(KCNQ2):c.1093C>T (p.Arg365Ter)
NM_172107.4(KCNQ2):c.1229del (p.Pro410fs) rs886041339
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1411C>T (p.Gln471Ter)
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile) rs2080191127
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
NM_172107.4(KCNQ2):c.2048_2049del (p.His683fs)
NM_172107.4(KCNQ2):c.2315del (p.Pro772fs) rs2079959227
NM_172107.4(KCNQ2):c.2425C>T (p.Gln809Ter)
NM_172107.4(KCNQ2):c.388-2A>G rs2145779858
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.507_514+10del rs2081377258
NM_172107.4(KCNQ2):c.668_669del (p.Ser223fs)
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu) rs2145712576

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