ClinVar Miner

List of variants reported as likely pathogenic for colorectal cancer by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys) rs63750617 0.00002
NM_000179.3(MSH6):c.2779dup (p.Ile927fs) rs587782277 0.00001
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn) rs587779272 0.00001
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs) rs1060502886
NM_000179.3(MSH6):c.1871dup (p.Ser625fs)
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro) rs1553413288
NM_000179.3(MSH6):c.1_260del (p.Met1fs)
NM_000179.3(MSH6):c.2222dup (p.Asn741fs)
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.3(MSH6):c.2611del (p.Ile871fs)
NM_000179.3(MSH6):c.2982C>A (p.Tyr994Ter)
NM_000179.3(MSH6):c.305del (p.Gly102fs)
NM_000179.3(MSH6):c.3805dup (p.Cys1269fs)
NM_000179.3(MSH6):c.3815_3830dup (p.Asp1277delinsGluLysTer)
NM_000179.3(MSH6):c.4001+2T>C rs267608131
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.443dup (p.Leu148fs) rs1060502875
NM_000179.3(MSH6):c.997dup (p.Thr333fs)
NM_000179.3:c.458_4083del
NM_000249.4(MLH1):c.696_698del (p.Cys233del) rs1575480253
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
NM_001040108.2(MLH3):c.124del (p.Ala42fs)
NM_001040108.2(MLH3):c.983_986del (p.Ile328fs)

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