ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NC_000007.14:g.5997388del
NM_000179.2(MSH6):c.24C>G
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3923_3924insATCT
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3952A>T
NM_000251.2(MSH2):c.1760-1G>A rs587779110
NM_000251.2:c.(?_1277)_(2634_?)del
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153

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