ClinVar Miner

List of variants studied for Lynch syndrome by Department of Molecular Diagnostics,Institute of Oncology

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000179.2(MSH6):c.2092C>T (p.Gln698Ter) rs63750832
NM_000179.2(MSH6):c.3820G>T (p.Glu1274Ter) rs587779294
NM_000179.2(MSH6):c.619G>T (p.Glu207Ter)
NM_000249.3(MLH1):c.2236_2247del (p.Leu746_Leu749del)
NM_000251.2(MSH2):c.1015C>T (p.Gln339Ter) rs1558466577
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_001258281.1(MSH2):c.744+1del rs1194793421

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