ClinVar Miner

List of variants reported as likely benign for Lynch syndrome by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_000179.2(MSH6):c.1581G>A (p.Leu527=) rs775618855
NM_000179.2(MSH6):c.1914T>G (p.Leu638=) rs766310490
NM_000179.2(MSH6):c.2901A>C (p.Ile967=) rs863224330
NM_000179.2(MSH6):c.3024C>G (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3438+17G>C rs759737239
NM_000179.2(MSH6):c.3439-8A>G rs863224332
NM_000179.2(MSH6):c.4001+11_4001+35del rs878853743
NM_000179.2(MSH6):c.458-5del rs587781955
NM_000251.2(MSH2):c.-225G>C rs138068023
NM_000251.2(MSH2):c.1114T>C (p.Leu372=) rs770201760
NM_000251.3(MSH2):c.1511-41G>C rs202215396
NM_000251.3(MSH2):c.1759+11_1759+15del rs878853805
NM_000535.7(PMS2):c.164-6T>C rs1060504837
NM_000535.7(PMS2):c.2469C>T (p.Asn823=) rs878854048
NM_002354.2(EPCAM):c.147T>C (p.Thr49=) rs190508047
NM_002354.2(EPCAM):c.390C>T (p.Asp130=) rs863224389
NM_002354.2(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.2(EPCAM):c.859-6A>C rs150307203

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