ClinVar Miner

List of variants in gene ATM reported by Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 323
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.901+25T>G rs1800735 0.06260
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.662+38T>C rs2235004 0.02706
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.497-48T>G rs2235001 0.02158
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.3403-34T>A rs148368017 0.01280
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.3993+40G>A rs3218709 0.00933
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.3993+48A>G rs3218712 0.00736
NM_000051.4(ATM):c.4776+41C>T rs114726455 0.00726
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.3747-34A>G rs3092840 0.00656
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.5762+27G>A rs3218686 0.00428
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
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.5005+21_5005+22insGC rs547799081 0.00378
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.370A>G (p.Ile124Val) rs148590073 0.00215
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.2125-48T>C rs371067508 0.00101
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.2096A>G (p.Glu699Gly) rs147934285 0.00077
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.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
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.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 0.00021
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.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2467-31T>C rs141761716 0.00017
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.4110-25G>A rs368881313 0.00014
NM_000051.4(ATM):c.1773T>C (p.Asn591=) rs61734356 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.5583G>A (p.Leu1861=) rs781383087 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.2220A>G (p.Ala740=) rs56353517 0.00005
NM_000051.4(ATM):c.2376+20G>C rs140364468 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.-18G>A rs374303671 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.2040C>T (p.Phe680=) rs587780855 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.2013A>T (p.Ile671=) rs1371341017 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.496+18T>A rs762171014 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.1235+20T>G rs762656752 0.00002
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser) rs755237639 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1236-8T>C rs756160331 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.1814A>G (p.His605Arg) rs771877351 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn) rs1060501565 0.00001
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys) rs750897021 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu) rs752099312 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro) rs876658363 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3994-50C>T rs753142634 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432 0.00001
NM_000051.4(ATM):c.48A>G (p.Glu16=) rs774768437 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.943_944del (p.Leu315fs) rs768024233 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000051.3(ATM):c.3245_3247delinsTGAT
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.-1C>T rs2078804456
NM_000051.4(ATM):c.-31+238G>A
NM_000051.4(ATM):c.1066-24A>G
NM_000051.4(ATM):c.1066-31del rs35813860
NM_000051.4(ATM):c.1066-31dup rs35813860
NM_000051.4(ATM):c.1066-32_1066-31del
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs) rs2079998938
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236-3dup rs34325032
NM_000051.4(ATM):c.1236-4_1236-3del rs34325032
NM_000051.4(ATM):c.1236-4_1236-3dup rs34325032
NM_000051.4(ATM):c.1264A>T (p.Lys422Ter) rs1555070678
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1367T>A (p.Leu456Ter)
NM_000051.4(ATM):c.1401C>T (p.Asp467=)
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1607+48AC[5]
NM_000051.4(ATM):c.1608-11T>G
NM_000051.4(ATM):c.1802+28G>T
NM_000051.4(ATM):c.1802+33_1802+45del
NM_000051.4(ATM):c.1802+35_1802+36del rs749339972
NM_000051.4(ATM):c.1802+36dup
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1803-35G>C
NM_000051.4(ATM):c.1803-9T>C rs2135352230
NM_000051.4(ATM):c.186-33G>A
NM_000051.4(ATM):c.186-40A>G
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
NM_000051.4(ATM):c.2124+19del rs35211268
NM_000051.4(ATM):c.2124+21A>T
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.214A>G (p.Thr72Ala) rs1223998386
NM_000051.4(ATM):c.216A>G (p.Thr72=)
NM_000051.4(ATM):c.2250+16C>G rs2135395339
NM_000051.4(ATM):c.2250+29G>A
NM_000051.4(ATM):c.2251-18dup rs730881284
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys) rs1591546453
NM_000051.4(ATM):c.2376+40A>G
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2421A>G (p.Leu807=)
NM_000051.4(ATM):c.2438A>C (p.Asn813Thr)
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2458A>T (p.Lys820Ter)
NM_000051.4(ATM):c.2467-48G>A
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
NM_000051.4(ATM):c.2565G>C (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2599A>C (p.Ser867Arg)
NM_000051.4(ATM):c.2638+24G>A
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2639-30T>C
NM_000051.4(ATM):c.2639-30_2639-29del
NM_000051.4(ATM):c.2639-39G>A
NM_000051.4(ATM):c.2639-50A>G
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2817C>T (p.Thr939=) rs1555083440
NM_000051.4(ATM):c.2838+15A>G
NM_000051.4(ATM):c.2838+28_2838+29insA
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.2921+2T>G rs2135549026
NM_000051.4(ATM):c.2921+38G>C
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922-8dup rs373881770
NM_000051.4(ATM):c.2922-9_2922-8del
NM_000051.4(ATM):c.2922-9_2922-8dup
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.3051G>A (p.Gln1017=)
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
NM_000051.4(ATM):c.3078-10T>G rs2135564722
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3078-45T>C
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr) rs748752687
NM_000051.4(ATM):c.3148C>T (p.Leu1050Phe)
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.331+2T>G rs1555055358
NM_000051.4(ATM):c.331+37C>T
NM_000051.4(ATM):c.331+48C>T
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala) rs572564322
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu) rs1310591343
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3402+39T>C
NM_000051.4(ATM):c.3403-15del
NM_000051.4(ATM):c.3403-15dup rs1555091083
NM_000051.4(ATM):c.3403-16_3403-15dup
NM_000051.4(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.4(ATM):c.3513G>T (p.Gln1171His) rs757201878
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe) rs1565442034
NM_000051.4(ATM):c.3577-46T>C
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3746+27dup
NM_000051.4(ATM):c.3747-28C>A
NM_000051.4(ATM):c.3747-43A>T
NM_000051.4(ATM):c.3747-4T>C
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg) rs770183693
NM_000051.4(ATM):c.3847_3848dup (p.Leu1283_Thr1284insTer)
NM_000051.4(ATM):c.3993+34C>G
NM_000051.4(ATM):c.3993+40G>T
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-32A>G
NM_000051.4(ATM):c.4110-37A>T
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.4(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.4(ATM):c.4236+14A>C
NM_000051.4(ATM):c.4237-13_4237-10del
NM_000051.4(ATM):c.4237-29A>G
NM_000051.4(ATM):c.4237-31C>T
NM_000051.4(ATM):c.4237-37dup
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
NM_000051.4(ATM):c.4437-14dup rs730881290
NM_000051.4(ATM):c.4437-32GTT[3]
NM_000051.4(ATM):c.4611+23A>G
NM_000051.4(ATM):c.4611+28G>A
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4641A>C (p.Ile1547=)
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
NM_000051.4(ATM):c.4776+19T>C
NM_000051.4(ATM):c.4776+43_4776+44del
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4909+11T>A
NM_000051.4(ATM):c.490T>C (p.Trp164Arg) rs1060501699
NM_000051.4(ATM):c.496+36T>C
NM_000051.4(ATM):c.497-46T>C
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.497-5_497-4del rs768748099
NM_000051.4(ATM):c.4988G>C (p.Gly1663Ala)
NM_000051.4(ATM):c.5005+21G>A
NM_000051.4(ATM):c.5005+42C>G
NM_000051.4(ATM):c.5006-49G>A
NM_000051.4(ATM):c.5006-50T>C
NM_000051.4(ATM):c.5178-25T>C
NM_000051.4(ATM):c.5229A>G (p.Thr1743=) rs878853519
NM_000051.4(ATM):c.5232G>T (p.Lys1744Asn)
NM_000051.4(ATM):c.5320-48A>G
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.5410A>C (p.Ile1804Leu)
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
NM_000051.4(ATM):c.550A>G (p.Arg184Gly) rs1555066377
NM_000051.4(ATM):c.5561_5568dup (p.Ser1857fs)
NM_000051.4(ATM):c.5561del (p.Thr1854fs)
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn) rs761257154
NM_000051.4(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.4(ATM):c.5675-48T>C
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
NM_000051.4(ATM):c.5762+1G>A rs869312756
NM_000051.4(ATM):c.5762+26C>T rs78330259
NM_000051.4(ATM):c.662+48C>T
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.663-37C>T
NM_000051.4(ATM):c.666A>G (p.Gln222=)
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.72+22A>T
NM_000051.4(ATM):c.875del (p.Pro292fs)
NM_000051.4(ATM):c.923G>A (p.Trp308Ter) rs1591510553

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