ClinVar Miner

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

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NC_000003.11:g.(?_37053311)_(37059090_?)del
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000249.3(MLH1):c.1039-2A>C rs267607815
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.2177C>G (p.Ser726Ter) rs864622457
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.1510+2T>C rs1060502023
NM_000251.2(MSH2):c.1662-12_1677delTTCGATTTGCAGCAAATTGACTTCTTTA rs864622436
NM_000251.2(MSH2):c.1759+1G>C rs587779108
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.2459-1G>A rs1060501991
NM_000251.2(MSH2):c.2634+5G>T rs267608017
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.942+2_942+6delTAAAA rs755583143
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_002354.2(EPCAM):c.859-1G>A rs863224453
NM_002354.2(EPCAM):c.904-2A>G rs878854496

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