ClinVar Miner

List of variants in gene MSH2 reported as likely pathogenic for Lynch syndrome I

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Total variants: 16
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HGVS dbSNP
NM_000251.2(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1046_1047delinsGC (p.Pro349Arg) rs1558466685
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1667T>G (p.Leu556Trp) rs587779101
NM_000251.2(MSH2):c.2075G>T (p.Gly692Val) rs63751432
NM_000251.2(MSH2):c.2090G>A (p.Cys697Tyr) rs63750398
NM_000251.2(MSH2):c.2251G>C (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2304del (p.Glu768fs) rs587783053
NM_000251.2(MSH2):c.2363_2364del (p.Thr788fs) rs63750937
NM_000251.2(MSH2):c.2635-2A>G
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.354T>G (p.Tyr118Ter) rs1553350250
NM_000251.2(MSH2):c.806C>A (p.Ser269Ter) rs63750058
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_001258281.1(MSH2):c.744+1del rs1194793421

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