ClinVar Miner

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

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Gene type:
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Total variants: 43
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HGVS dbSNP
NM_000535.5:c.2276-?_2589+?del
NM_000535.6(PMS2):c.23+21_23+28delTCCGGTGT rs1554308880
NM_000535.7(PMS2):c.-13G>C rs747488315
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.7(PMS2):c.1360C>T (p.Leu454=) rs1338448094
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-7C>T rs55954143
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.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.23+16A>G rs1554308921
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
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.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.251-11C>G rs761795058
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668

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