ClinVar Miner

List of variants in gene PRRT2 reported as likely pathogenic

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Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212
NM_145239.3(PRRT2):c.304del (p.Glu102fs) rs1567379016
NM_145239.3(PRRT2):c.341_342del (p.Val114fs)
NM_145239.3(PRRT2):c.525del (p.Glu177fs) rs1596891528
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) rs1131692000
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) rs1064793238
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter) rs1555502574
NM_145239.3(PRRT2):c.872C>A (p.Ala291Asp) rs796052936
NM_145239.3(PRRT2):c.879+1_879+2insGGTCCCA
NM_145239.3(PRRT2):c.880-1G>T rs1596893952
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217
NM_145239.3(PRRT2):c.963_978delinsTA (p.Val322fs)
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
NM_145239.3(PRRT2):c.972_975del (p.Val325fs) rs1555502908

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