ClinVar Miner

List of variants studied for colonic neoplasm by Pathway Genomics

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1090C>T (p.Arg364Cys) rs151316420
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.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.536A>G (p.Tyr179Cys) rs34612342
NM_001128425.1(MUTYH):c.55C>T (p.Arg19Ter) rs587780088
NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) rs587782885

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