ClinVar Miner

List of variants studied for Lynch syndrome by Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_001281492.1(MSH6):c.2871dup (p.Phe958fs) rs267608078

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