ClinVar Miner

List of variants reported as pathogenic for colonic neoplasm by Pathway Genomics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_001128425.1(MUTYH):c.1147del (p.Ala385fs) rs587778536
NM_001128425.1(MUTYH):c.1171C>T (p.Gln391Ter) rs587783057
NM_001128425.1(MUTYH):c.1187-2A>G rs587781628
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1214C>T (p.Pro405Leu) rs529008617
NM_001128425.1(MUTYH):c.1227_1228dup (p.Glu410fs) rs587780078
NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys) rs34612342
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088

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