ClinVar Miner

List of variants reported as uncertain significance for benign neonatal seizures by Baylor Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.477G>A (p.Leu159=) rs1826947671 0.00001
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) rs943073757
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) rs1227129126
NM_004519.4(KCNQ3):c.2129A>G (p.Tyr710Cys) rs1060500605
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623

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