ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome by Pathway Genomics

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000251.2(MSH2):c.1271dup (p.His424fs) rs587783055
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_001167617.2(MLH1):c.1858_1859CA[3] (p.Ile621fs) rs63750971
NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs) rs587783056

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