List of variants reported as pathogenic for Familial adenomatous polyposis 2 by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	rs34612342	0.00168
NM_001048174.2(MUTYH):c.849+3A>C	rs587780751	0.00013
NM_001048174.2(MUTYH):c.305-1G>C	rs372267274	0.00004
NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	rs529008617	0.00003
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	rs587782228	0.00003
NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter)	rs587782885	0.00002
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	rs587783057	0.00001
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	rs587778536
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	rs587780078
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	rs587778541
NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	rs121908381
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	rs121908380

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.