ClinVar Miner

List of variants reported as likely pathogenic for Lynch syndrome by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter) rs746306598
NM_000179.3(MSH6):c.3173-1G>C rs397515875
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs) rs1572747278
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter) rs1572747685
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153

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