ClinVar Miner

List of variants in gene PMS2 reported as pathogenic by Department of Pathology and Laboratory Medicine,Sinai Health System

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Gene type:
ClinVar version:
Total variants: 10
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NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del) rs1554292684
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150

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