ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome 1 by Baylor Genetics

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+2T>A rs587779195 0.00101
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000251.3(MSH2):c.1042del (p.Gln348fs) rs1553353233
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs) rs2465986626
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter) rs730881755
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs) rs1553361231
NM_000251.3(MSH2):c.1401del (p.Glu467fs) rs1553365711
NM_000251.3(MSH2):c.1527dup (p.Gln510fs) rs2528748371
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter) rs63750330
NM_000251.3(MSH2):c.1613dup (p.Asn538fs) rs1558511092
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly) rs267607985
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs) rs1573566787
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs) rs876659961
NM_000251.3(MSH2):c.2010dup (p.Asn671fs) rs63751123
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.3(MSH2):c.2211-10T>A rs267608006
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs) rs2528978803
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val) rs775464903
NM_000251.3(MSH2):c.2342del (p.Ala781fs) rs2528987038
NM_000251.3(MSH2):c.2363del (p.Thr788fs) rs2104405789
NM_000251.3(MSH2):c.2365del (p.Ala789fs) rs2528988982
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.3(MSH2):c.2629A>T (p.Arg877Ter) rs1667504677
NM_000251.3(MSH2):c.2635-24A>G rs1667575488
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer) rs2465704185
NM_000251.3(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.646-2A>G rs587779169
NM_000251.3(MSH2):c.647_648insTG (p.Ile217fs) rs2465747218
NM_000251.3(MSH2):c.690_693delinsCT (p.Asp231fs) rs2465749324
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter) rs864622183
NM_000251.3(MSH2):c.845_848del (p.Asp282fs) rs1553352462
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs) rs1672951706
NM_000251.3(MSH2):c.870_874del (p.Glu290fs) rs1114167848
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376

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