ClinVar Miner

List of variants in gene ATM studied for Familial cancer of breast; Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 347
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.1636C>G (p.Leu546Val) rs2227924 0.01541
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_000051.4(ATM):c.2922-21T>G rs149096247 0.00835
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00600
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00130
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00072
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00019
NM_000051.3(ATM):c.-371G>C rs890835455 0.00018
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00005
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164 0.00005
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00005
NM_000051.4(ATM):c.5675-13T>A rs373219694 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1898+3A>G rs200169643 0.00003
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg) rs587782141 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00003
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00003
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser) rs368111672 0.00003
NM_000051.4(ATM):c.3994-7C>T rs769346400 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2638+6T>C rs768305533 0.00002
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn) rs764564211 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn) rs876659092 0.00001
NM_000051.4(ATM):c.1065+4C>T rs1591511595 0.00001
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617 0.00001
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile) rs879254289 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.121A>G (p.Lys41Glu) rs1060501672 0.00001
NM_000051.4(ATM):c.1235+11dup rs773187419 0.00001
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys) rs750280306 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.1726A>G (p.Ile576Val) rs1064795170 0.00001
NM_000051.4(ATM):c.1898+10C>G rs199570442 0.00001
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2284C>G (p.Leu762Val) rs876659401 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00001
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly) rs748203812 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys) rs587780619 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00001
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905 0.00001
NM_000051.4(ATM):c.3244_3245insTG (p.His1082fs) rs761486324 0.00001
NM_000051.4(ATM):c.3247del (p.His1083fs) rs767099464 0.00001
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser) rs745863765 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr) rs1060501588 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.361T>A (p.Leu121Ile) rs587782178 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro) rs730881389 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00001
NM_000051.4(ATM):c.3994-159A>G rs864622543 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu) rs776581499 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe) rs1064793476 0.00001
NM_000051.4(ATM):c.4553A>G (p.His1518Arg) rs762132832 0.00001
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr) rs748898098 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 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.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.658G>A (p.Ala220Thr) rs2135227395 0.00001
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154 0.00001
NM_000051.4(ATM):c.839T>C (p.Ile280Thr) rs587782080 0.00001
NM_000051.4(ATM):c.967A>G (p.Ile323Val) rs587781511 0.00001
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1017del (p.Ile339fs) rs1469427343
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.1065+1G>T rs201089102
NM_000051.4(ATM):c.1068_1235+2del
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe) rs1555069560
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu) rs1565378912
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs) rs1591517571
NM_000051.4(ATM):c.1176C>T (p.Gly392=) rs1800727
NM_000051.4(ATM):c.1188A>G (p.Ile396Met) rs1565379417
NM_000051.4(ATM):c.1201C>T (p.Gln401Ter) rs772529339
NM_000051.4(ATM):c.1235+13C>A
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-404C>T
NM_000051.4(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu) rs780097986
NM_000051.4(ATM):c.1446A>T (p.Lys482Asn)
NM_000051.4(ATM):c.1470dup (p.Thr491fs) rs2135323866
NM_000051.4(ATM):c.1473_1474dup (p.Phe492fs)
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1617dup (p.Cys540fs) rs2497266653
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly) rs762476611
NM_000051.4(ATM):c.1702A>T (p.Arg568Ter) rs876659425
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser) rs878853488
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1899-14T>C rs2135365137
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.1924G>T (p.Glu642Ter) rs1057519364
NM_000051.4(ATM):c.1927C>G (p.Leu643Val) rs1565389730
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.193C>T (p.Gln65Ter) rs775248597
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu) rs1565389902
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2047C>T (p.His683Tyr) rs1565390482
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2124+12dup rs769051992
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2143C>G (p.Leu715Val) rs758864982
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2230G>T (p.Glu744Ter) rs2135394519
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2441A>G (p.Asp814Gly)
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.2546T>C (p.Val849Ala) rs1555082209
NM_000051.4(ATM):c.2569C>G (p.Leu857Val) rs876659486
NM_000051.4(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2857G>T (p.Glu953Ter)
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys) rs538105098
NM_000051.4(ATM):c.2926G>A (p.Val976Met) rs1178628574
NM_000051.4(ATM):c.3023del (p.Ser1008fs) rs2135553794
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val) rs1263930458
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser) rs775095314
NM_000051.4(ATM):c.3161C>A (p.Pro1054His) rs1800057
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe) rs1555086120
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs) rs879254281
NM_000051.4(ATM):c.32G>C (p.Cys11Ser) rs1364898025
NM_000051.4(ATM):c.3307G>C (p.Asp1103His) rs1555090114
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu) rs1049900772
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu) rs876659067
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala) rs1060501708
NM_000051.4(ATM):c.3577-10G>A rs1343046904
NM_000051.4(ATM):c.3577-12del rs730881288
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly) rs876660855
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter) rs1334793787
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.372_378del (p.Met125fs)
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter) rs1190025970
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly) rs1565447790
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer) rs1591646379
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3993+2T>C rs2135710273
NM_000051.4(ATM):c.401G>T (p.Gly134Val) rs771166271
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4109+5G>A rs2082568277
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4161dup (p.Ala1388fs) rs2546904297
NM_000051.4(ATM):c.4236+1G>A rs876660674
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs) rs1591663236
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg) rs1565456454
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.443A>G (p.Asp148Gly) rs2135124684
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro) rs1064793037
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro) rs2135797205
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter) rs2082872908
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4608dup (p.Gln1537fs)
NM_000051.4(ATM):c.4612-12A>G
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val) rs1448017467
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.483G>C (p.Gln161His) rs864622742
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4910-13A>G
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.4965del (p.Lys1656fs) rs2546954923
NM_000051.4(ATM):c.497-2661A>G rs1591491477
NM_000051.4(ATM):c.4983_4985delinsTCTTTAT (p.Thr1662fs)
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5006-10C>T rs2083315555
NM_000051.4(ATM):c.500T>C (p.Leu167Ser)
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5240A>G (p.His1747Arg) rs1555105695
NM_000051.4(ATM):c.5319+3C>T rs371640963
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu) rs1591712583
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu) rs1555106518
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs) rs1060501580
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu) rs765027485
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.649_651dup (p.Ile217dup) rs1565369864
NM_000051.4(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.4(ATM):c.709del (p.Thr237fs)
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.799A>G (p.Thr267Ala) rs876660962
NM_000051.4(ATM):c.809G>A (p.Arg270Lys) rs587781857
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.871C>G (p.His291Asp) rs1555067280
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.951dup (p.Leu318fs)
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.4(ATM):c.986_990del (p.Arg329fs)

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