ClinVar Miner

List of variants studied for Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711 0.00039
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826 0.00026
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676 0.00003
NM_145239.3(PRRT2):c.107_110del (p.Gln36fs)
NM_145239.3(PRRT2):c.565G>C (p.Ala189Pro)
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr) rs757132796

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