List of variants in gene ATM reported as uncertain significance by GeneKor MSA

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: 36

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	rs34231402	0.00096
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	rs139552233	0.00034
NM_000051.4(ATM):c.2021A>G (p.His674Arg)	rs201762714	0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	rs147515380	0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	rs56123940	0.00007
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)	rs769106895	0.00006
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)	rs139893395	0.00005
NM_000051.4(ATM):c.1888G>A (p.Val630Met)	rs148191382	0.00004
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)	rs199954262	0.00003
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	rs202173660	0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)	rs587779819	0.00001
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)	rs372230498	0.00001
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe)	rs1188614092	0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)	rs189445371	0.00001
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)	rs587779832	0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)	rs370974808	0.00001
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)	rs368830730	0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)	rs762998620	0.00001
NM_000051.4(ATM):c.787C>T (p.Leu263Phe)	rs876659531	0.00001
NM_000051.3:c.475G>A
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)	rs1565378985
NM_000051.4(ATM):c.1188A>G (p.Ile396Met)	rs1565379417
NM_000051.4(ATM):c.2251-4A>G	rs786202935
NM_000051.4(ATM):c.2518G>A (p.Asp840Asn)	rs879189597
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	rs587778069
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	rs749471737
NM_000051.4(ATM):c.3410G>A (p.Ser1137Asn)	rs876659633
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala)	rs1555092285
NM_000051.4(ATM):c.3728A>C (p.Asn1243Thr)	rs730881363
NM_000051.4(ATM):c.4076C>A (p.Ala1359Asp)	rs1565452823
NM_000051.4(ATM):c.4111G>A (p.Asp1371Asn)	rs1565454823
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)	rs777812804
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	rs763457172
NM_000051.4(ATM):c.5630T>G (p.Phe1877Cys)	rs202028401
NM_000051.4(ATM):c.976A>G (p.Ile326Val)	rs1555068422
NM_000051.4(ATM):c.978A>G (p.Ile326Met)	rs1555068424

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.