List of variants in gene ATM, C11orf65 studied for colorectal neoplasm

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	rs201958469	0.00013
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	rs34393781	0.00010
NM_000051.4(ATM):c.6199-6G>A	rs1555114529	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	rs1339238483
NM_000051.4(ATM):c.6453-5A>G	rs755177899
NM_000051.4(ATM):c.7629+13G>A	rs563651647
NM_000051.4(ATM):c.7736_7737insC (p.Arg2579fs)	rs2136525140
NM_000051.4(ATM):c.8101del (p.Lys2700_Ile2701insTer)	rs2086682689
NM_000051.4(ATM):c.8418+5_8418+8del	rs730881295
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)	rs2091262473

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.