ClinVar Miner

List of variants in gene PRRT2 studied for Seizures, benign familial infantile, 2; Episodic kinesigenic dyskinesia 1; Infantile convulsions and choreoathetosis

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Gene type:
ClinVar version:
Total variants: 5
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NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559

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