ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic for Episodic kinesigenic dyskinesia 1

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Gene type:
ClinVar version:
Total variants: 12
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NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) rs397515576
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128
NM_145239.3(PRRT2):c.972del (p.Val325fs) rs730882066

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