ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
ClinVar version:
Total variants: 11
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GRCh37/hg19 16p11.2(chr16:29824309-29825959)x1
GRCh37/hg19 16p11.2(chr16:29824376-29825959)x1
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs)
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg)
NM_145239.3(PRRT2):c.971dup (p.Val325fs)

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