ClinVar Miner

List of variants in gene PRRT2 studied for Infantile convulsions and choreoathetosis

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Total variants: 16
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HGVS dbSNP
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.524T>C (p.Val175Ala)
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly) rs1057518890
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.793C>A (p.Pro265Thr)
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.910G>A (p.Asp304Asn)
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.986T>A (p.Ile329Asn)
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)

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