ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nocturnal frontal lobe epilepsy 4 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000742.4(CHRNA2):c.1152del (p.Pro385fs) rs1812569409
NM_000742.4(CHRNA2):c.215G>C (p.Arg72Pro) rs201922955
NM_000742.4(CHRNA2):c.987_990del (p.Glu330fs) rs1812583233

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