List of variants in gene ATM reported as benign by Color Diagnostics, LLC DBA Color Health

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: 60

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.3576+687C>T	rs1003623	0.52044
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)	rs1801516	0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	rs2234997	0.06244
NM_000051.4(ATM):c.4777-20A>G	rs3218678	0.06221
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.2639-17G>T	rs2234994	0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	rs3092856	0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	rs2235000	0.01889
NM_000051.4(ATM):c.186-17A>G	rs4987907	0.01587
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.2572T>C (p.Phe858Leu)	rs1800056	0.00861
NM_000051.4(ATM):c.2922-21T>G	rs149096247	0.00835
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	rs4986761	0.00782
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.3383A>G (p.Gln1128Arg)	rs2229020	0.00636
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.5558A>T (p.Asp1853Val)	rs1801673	0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	rs2227922	0.00431
NM_000051.4(ATM):c.5005+18G>A	rs76290788	0.00414
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.3993+5G>T	rs3092842	0.00287
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	rs641252	0.00265
NM_000051.4(ATM):c.2921+19dup	rs56112367	0.00245
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	rs3218690	0.00200
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	rs56128736	0.00186
NM_000051.4(ATM):c.609C>T (p.Asp203=)	rs144709948	0.00166
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)	rs61734354	0.00146
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	rs4988008	0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	rs138327406	0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=)	rs56252953	0.00102
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	rs34231402	0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)	rs146382972	0.00080
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	rs140856217	0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)	rs138393322	0.00044
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)	rs55870064	0.00030
NM_000051.4(ATM):c.2019G>A (p.Lys673=)	rs786203021	0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)	rs370269552	0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)	rs370680798	0.00001
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	rs3218695
NM_000051.4(ATM):c.2922-10_2922-8del	rs373881770
NM_000051.4(ATM):c.3285-9del	rs1799757
NM_000051.4(ATM):c.3403-13dup	rs3218681
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)	rs568451087

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.