ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:29824309-29825959)x1
GRCh37/hg19 16p11.2(chr16:29824376-29825959)x1
NM_145239.3(PRRT2):c.173del (p.Pro58fs) rs796052940
NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) rs886041735
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.215_216del (p.Thr72fs) rs796052943
NM_145239.3(PRRT2):c.27dup (p.Glu10Ter)
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
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.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.880-34G>A
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg)
NM_145239.3(PRRT2):c.971dup (p.Val325fs)

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