List of variants in gene ATM reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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: 75

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	rs2229019	0.01543
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.5497-15G>C	rs3092828	0.00363
NM_000051.4(ATM):c.3993+5G>T	rs3092842	0.00287
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.5071A>C (p.Ser1691Arg)	rs1800059	0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=)	rs144709948	0.00166
NM_000051.4(ATM):c.1066-6T>G	rs201686625	0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	rs28904919	0.00137
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.2289T>A (p.Phe763Leu)	rs34231402	0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	rs149711770	0.00081
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)	rs3092859	0.00076
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	rs2235006	0.00071
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.103C>A (p.Arg35=)	rs55861249	0.00032
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)	rs146531614	0.00028
NM_000051.4(ATM):c.3402+17T>C	rs3092825	0.00020
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	rs35578748	0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)	rs144338238	0.00019
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)	rs587781812	0.00017
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	rs147600485	0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=)	rs61734356	0.00013
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)	rs183214437	0.00009
NM_000051.4(ATM):c.5005+7_5005+8del	rs587780626	0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	rs145053092	0.00009
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	rs56123940	0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His)	rs202160435	0.00006
NM_000051.4(ATM):c.1887C>T (p.Ser629=)	rs143097772	0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=)	rs540920248	0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His)	rs142317485	0.00006
NM_000051.4(ATM):c.1888G>A (p.Val630Met)	rs148191382	0.00004
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)	rs149182949	0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)	rs148358896	0.00004
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)	rs587780621	0.00003
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)	rs377316982	0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)	rs145236132	0.00003
NM_000051.4(ATM):c.1104A>G (p.Gln368=)	rs560691658	0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=)	rs752849892	0.00002
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)	rs587780543	0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)	rs587778073	0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)	rs747317946	0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	rs148064985	0.00002
NM_000051.4(ATM):c.1197C>T (p.His399=)	rs786201131	0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=)	rs763108858	0.00001
NM_000051.4(ATM):c.1656A>G (p.Pro552=)	rs1060504275	0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=)	rs876658836	0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=)	rs730881286	0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)	rs867514913	0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)	rs369518512	0.00001
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)	rs540798997	0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)	rs786203559	0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)	rs370680798	0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=)	rs876658806	0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=)	rs755860432	0.00001
NM_000051.4(ATM):c.1200T>C (p.Leu400=)	rs1274342103
NM_000051.4(ATM):c.1227T>C (p.Leu409=)	rs1060504273
NM_000051.4(ATM):c.133C>A (p.Arg45=)	rs3218684
NM_000051.4(ATM):c.1344T>C (p.His448=)	rs2080098485
NM_000051.4(ATM):c.1898+10C>G	rs199570442
NM_000051.4(ATM):c.2148C>G (p.Val716=)	rs1800701
NM_000051.4(ATM):c.2253T>A (p.Ser751=)
NM_000051.4(ATM):c.2679A>G (p.Gln893=)	rs139316519
NM_000051.4(ATM):c.2805G>C (p.Thr935=)	rs55934812
NM_000051.4(ATM):c.3154-4G>A	rs199543313
NM_000051.4(ATM):c.3402+32_3402+34del	rs545376366
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)	rs1591708913
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)	rs1468101040
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)	rs786203902
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)	rs864622127

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