ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic

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Gene type:
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Total variants: 64
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HGVS dbSNP
GRCh37/hg19 16p11.2(chr16:29824309-29825959)x1
GRCh37/hg19 16p11.2(chr16:29824376-29825959)x1
NC_000016.10:g.(?_29813035)_(29814658_?)del
NC_000016.10:g.(?_29813045)_(29814648_?)del
NC_000016.10:g.(?_29813054)_(29813955_?)del
NM_145239.3(PRRT2):c.106del (p.Gln36fs) rs1596889984
NM_145239.3(PRRT2):c.173del (p.Pro58fs) rs796052940
NM_145239.3(PRRT2):c.189del (p.Lys64fs)
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.282_283insC (p.Ser95fs)
NM_145239.3(PRRT2):c.291del (p.Asn98fs) rs730882073
NM_145239.3(PRRT2):c.303del (p.Glu102fs) rs1596890692
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.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.49_50del (p.Pro18fs)
NM_145239.3(PRRT2):c.503del (p.Pro168fs)
NM_145239.3(PRRT2):c.510dup (p.Leu171fs) rs397515576
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.535_538del (p.Gln179fs) rs1555502708
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs)
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.579dup (p.Glu194fs)
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.641_642insA (p.Arg217fs)
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.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs)
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter) rs1567379819
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs) rs1596892401
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.742dup (p.Ser248fs) rs1596892633
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer)
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128
NM_145239.3(PRRT2):c.799del (p.Asp267fs) rs1567380076
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter)
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter) rs1596893055
NM_145239.3(PRRT2):c.848_863del (p.Val283fs) rs1596893071
NM_145239.3(PRRT2):c.879+5G>A rs1596893185
NM_145239.3(PRRT2):c.880-1G>A
NM_145239.3(PRRT2):c.880-34G>A
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer)
NM_145239.3(PRRT2):c.921del (p.Gln307fs)
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509
NM_145239.3(PRRT2):c.970G>A (p.Gly324Arg)
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
NM_145239.3(PRRT2):c.972del (p.Val325fs) rs730882066

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