ClinVar Miner

List of variants reported as pathogenic for colonic neoplasm by 3DMed Clinical Laboratory Inc

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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NM_000038.6(APC):c.3922_3926AAAGA[1] (p.Glu1309fs) rs121913224
NM_000179.2(MSH6):c.1808dup (p.Glu604fs) rs1553413200
NM_000249.3(MLH1):c.1667+1G>A rs1434898623
NM_000249.3(MLH1):c.497dup (p.Leu166fs) rs587779018
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.887T>G (p.Leu296Ter) rs63750547
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756

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