ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.2(MSH6):c.3701_3706dup (p.Glu1234_Leu1235dup) rs63750523
NM_000179.2:c.1-?_260+?dup
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.116+3A>G rs1553637475
NM_000249.3(MLH1):c.1664T>G (p.Leu555Arg) rs587778937
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.208-3C>T rs267607720
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.332C>T (p.Ala111Val) rs63750539
NM_000249.3(MLH1):c.546-?_1731+?dup
NM_000251.2(MSH2):c.1067T>G (p.Ile356Arg) rs753075410
NM_000251.2(MSH2):c.211G>C (p.Gly71Arg) rs587782659
NM_000251.2(MSH2):c.2182_2199del (p.Glu728_Ala733del) rs1553369194
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000535.5:c.2276-?_2589+?del
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
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.23+21_23+28del rs1554308880
NM_001258271.1(MLH1):c.1896+1279_1896+1281del rs1553664506

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