ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic for Infantile convulsions and choreoathetosis

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Total variants: 9
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NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125

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