ClinVar Miner

List of variants reported as uncertain significance for Lynch syndrome by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.-3G>C rs587779960 0.00013
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr) rs63751454 0.00008
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr) rs150990541 0.00006
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.240A>G (p.Val80=) rs864622281 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr) rs779411998 0.00002
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr) rs730881778 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000179.3(MSH6):c.*11T>C rs757708396 0.00001
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg) rs374597395 0.00001
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg) rs143643688 0.00001
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr) rs143520357 0.00001
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp) rs780485157 0.00001
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala) rs1449733937 0.00001
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe) rs63750062 0.00001
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr) rs876658481 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del) rs587782576
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser) rs1553413048
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile) rs763146296
NM_000179.3(MSH6):c.3173-3C>G rs1060502944
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs) rs1553334056
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000249.4(MLH1):c.1667+8A>C rs1553658260
NM_000249.4(MLH1):c.319A>G (p.Ile107Val) rs572906317
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile) rs201118107
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser) rs587782891
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu) rs2104435371
NM_000251.3(MSH2):c.332C>T (p.Ala111Val) rs1672561306
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.448G>T (p.Val150Phe) rs1558459157
NM_000251.3(MSH2):c.965G>T (p.Gly322Val) rs4987188
NM_000535.7(PMS2):c.1356T>G (p.Gly452=) rs786202946
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg) rs876658481
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217

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