ClinVar Miner

List of variants reported as uncertain significance for familial adenomatous polyposis 2 by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu) rs587780079 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) rs587778542 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg) rs1212933615 0.00003
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp) rs587778539 0.00001
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys) rs200747973 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser) rs754178539 0.00001
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu) rs878854183
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1434+3A>T rs1553123967
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro) rs587780081
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu) rs1557444106
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His) rs1557486724
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr) rs1557484437
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala) rs771064557
NM_001048174.2(MUTYH):c.606+3G>C rs1553128340
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala) rs587782351
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser) rs587782351
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu) rs1557471507

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.