List of variants reported as pathogenic for ataxia telangiectasia by Natera, Inc.

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

Total variants: 103

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HGVS	dbSNP	gnomAD frequency
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	rs587781722	0.00021
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	rs28904921	0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	rs377349459	0.00006
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	rs587781347	0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	rs780619951	0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)	rs376603775	0.00004
NM_000051.4(ATM):c.5763-1050A>G	rs774925473	0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	rs587779852	0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	rs1137887	0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	rs758081262	0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	rs730881333	0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	rs730881294	0.00003
NM_000051.4(ATM):c.8786+1G>A	rs17174393	0.00002
NM_000051.4(ATM):c.901+1G>A	rs748840480	0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	rs587782292	0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	rs886041340	0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	rs587779815	0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	rs749036865	0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	rs876660485	0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	rs879254093	0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	rs587779818	0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	rs786203606	0.00001
NM_000051.4(ATM):c.3154-2A>G	rs730881357	0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	rs1060501687	0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	rs587779833	0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	rs587776551	0.00001
NM_000051.4(ATM):c.4909+1G>A	rs756987454	0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	rs764389018	0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	rs587779846	0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	rs786204433	0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	rs775036118	0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)	rs1060501536	0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	rs564652222	0.00001
NM_000051.4(ATM):c.6997dup	rs587781299	0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	rs587779865	0.00001
NM_000051.4(ATM):c.7630-2A>C	rs587779866	0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	rs371638537	0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	rs778269655	0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	rs587779872	0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	rs587778080	0.00001
NM_000051.4(ATM):c.8988-1G>C	rs730881386	0.00001
NM_000051.4(ATM):c.902-1G>T	rs1064793518	0.00001
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	rs55861249
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	rs376170600
NM_000051.4(ATM):c.1158del (p.Lys387fs)	rs587782085
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)	rs876659450
NM_000051.4(ATM):c.1215del (p.Asn405fs)	rs1555069815
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	rs587781598
NM_000051.4(ATM):c.138_141del (p.His46fs)	rs786203370
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	rs587779817
NM_000051.4(ATM):c.1660del (p.Thr554fs)	rs876658572
NM_000051.4(ATM):c.1898+1G>T	rs758325274
NM_000051.4(ATM):c.2113del (p.Tyr705fs)	rs863224822
NM_000051.4(ATM):c.217_218del (p.Glu73fs)	rs762089971
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	rs587781658
NM_000051.4(ATM):c.2466+1del	rs786202783
NM_000051.4(ATM):c.2502dup (p.Val835fs)	rs587779822
NM_000051.4(ATM):c.2521del (p.Asp841fs)	rs1175457710
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)	rs876660780
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)	rs786202695
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	rs757237504
NM_000051.4(ATM):c.2880del (p.Leu961fs)	rs730881300
NM_000051.4(ATM):c.2921+1G>A	rs587781558
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)	rs876658502
NM_000051.4(ATM):c.3206del (p.Pro1069fs)	rs1060501677
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)	rs1060501711
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)	rs876659067
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)	rs587782861
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)	rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	rs587781831
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)	rs587779836
NM_000051.4(ATM):c.3850del (p.Thr1284fs)	rs876660865
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)	rs587781823
NM_000051.4(ATM):c.4373del (p.Gly1458fs)	rs587781653
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)	rs771936821
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)	rs876658159
NM_000051.4(ATM):c.4776+2T>C	rs587781927
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)	rs1591499665
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	rs587781730
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)	rs1438576066
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	rs532480170
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	rs397514577
NM_000051.4(ATM):c.6228del (p.Leu2077fs)	rs786203008
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	rs878853535
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	rs772821016
NM_000051.4(ATM):c.7517_7520del	rs587781905
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)	rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs)	rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	rs587780639
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs)	rs587781978
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	rs587781967
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	rs864622389
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	rs786202800
NM_000051.4(ATM):c.8418+5_8418+8del	rs730881295
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)	rs587781363
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	rs770641163
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)	rs876660022

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