List of variants in gene ATM reported as benign by Department of Pathology and Laboratory Medicine, Sinai Health System

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

Total variants: 27

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	rs1800889	0.03196
NM_000051.4(ATM):c.3403-15T>A	rs79701258	0.02975
NM_000051.4(ATM):c.657T>C (p.Cys219=)	rs2235003	0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=)	rs4987943	0.02542
NM_000051.4(ATM):c.5497-8T>C	rs3092829	0.02183
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01889
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	rs2229019	0.01543
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	rs2227924	0.01541
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	rs1800057	0.01452
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	rs3218673	0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=)	rs3218687	0.01393
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	rs3092857	0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)	rs1800058	0.01150
NM_000051.4(ATM):c.735C>T (p.Val245=)	rs3218674	0.01085
NM_000051.4(ATM):c.544G>C (p.Val182Leu)	rs3218707	0.00757
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	rs1800054	0.00712
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)	rs56355831	0.00599
NM_000051.4(ATM):c.186-7C>T	rs55674039	0.00568
NM_000051.4(ATM):c.1176C>G (p.Gly392=)	rs1800727	0.00388
NM_000051.4(ATM):c.5497-15G>C	rs3092828	0.00363
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00137
NM_000051.4(ATM):c.2127T>C (p.Ile709=)	rs56252953	0.00102
NM_000051.4(ATM):c.3403-15_3403-14insTA	rs1555091084	0.00021
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	rs35578748	0.00019
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)	rs183214437	0.00009
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	rs3218695
NM_000051.4(ATM):c.4242C>G (p.Ser1414=)	rs2135759239

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.