ClinVar Miner

List of variants in gene ATM reported by PreventionGenetics, part of Exact Sciences

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 332
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_000051.4(ATM):c.4777-20A>G rs3218678 0.05797
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03133
NM_000051.4(ATM):c.3994-97G>A rs4988000 0.02844
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02129
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01739
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.2685A>G (p.Leu895=) rs3218687 0.01393
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01296
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01106
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00711
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00600
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.3994-121del rs56013141 0.00590
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
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.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00198
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
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.998C>T (p.Ser333Phe) rs28904919 0.00133
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.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00092
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00078
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
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.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_000051.4(ATM):c.103C>A (p.Arg35=) rs55861249 0.00032
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00029
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
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.4362A>C (p.Lys1454Asn) rs148993589 0.00025
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00021
NM_000051.4(ATM):c.3403-15_3403-14insTA rs1555091084 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.3994-111C>G rs879004695 0.00019
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00019
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.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00015
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.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00010
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00010
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00010
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys) rs201719927 0.00009
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00009
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.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3588A>G (p.Lys1196=) rs376524625 0.00006
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala) rs1240167425 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.2919A>G (p.Leu973=) rs587779829 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.861T>C (p.Ile287=) rs55849405 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.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.1953A>G (p.Leu651=) rs730881283 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 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.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00003
NM_000051.4(ATM):c.1379C>T (p.Thr460Met) rs587781841 0.00003
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.2159G>A (p.Arg720His) rs55830714 0.00003
NM_000051.4(ATM):c.2187C>T (p.Tyr729=) rs373430058 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2638+9A>G rs761592414 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00003
NM_000051.4(ATM):c.2838+9C>G rs370160823 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3378A>G (p.Lys1126=) rs149182949 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe) rs759340881 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1629T>G (p.Thr543=) rs760285673 0.00002
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr) rs587781595 0.00002
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile) rs779148780 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00002
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00002
NM_000051.4(ATM):c.5319+7T>A rs925428128 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1251C>T (p.Thr417=) rs1555070643 0.00001
NM_000051.4(ATM):c.1303T>C (p.Leu435=) rs748469311 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly) rs876659425 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.179T>C (p.Val60Ala) rs988441570 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.2013A>G (p.Ile671Met) rs1371341017 0.00001
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr) rs1219097850 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2208T>C (p.Ala736=) rs761874856 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe) rs3218688 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2839-583A>G rs1451969353 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln) rs774935453 0.00001
NM_000051.4(ATM):c.3336T>A (p.Pro1112=) rs758784434 0.00001
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys) rs200765255 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 0.00001
NM_000051.4(ATM):c.389A>G (p.Asp130Gly) rs766034066 0.00001
NM_000051.4(ATM):c.3994-50C>T rs753142634 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00001
NM_000051.4(ATM):c.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4492T>C (p.Leu1498=) rs748949478 0.00001
NM_000051.4(ATM):c.4612-17T>C rs550966528 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4770C>T (p.Leu1590=) rs749475519 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.591A>T (p.Gly197=) rs587780630 0.00001
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002 0.00001
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00001
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.728T>C (p.Leu243Ser) rs786202096 0.00001
NM_000051.4(ATM):c.738C>G (p.Asn246Lys) rs1335108218 0.00001
NM_000051.4(ATM):c.858A>G (p.Gln286=) rs145301478 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.958G>A (p.Val320Met) rs1060501655 0.00001
NM_000051.4(ATM):c.-26T>C rs2135002968
NM_000051.4(ATM):c.-30-5dup rs745673370
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1079A>T (p.Asp360Val) rs775767808
NM_000051.4(ATM):c.1116T>C (p.Thr372=) rs371985921
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg) rs876659275
NM_000051.4(ATM):c.1236-402T>A rs2497229900
NM_000051.4(ATM):c.1236-409C>G rs1368737559
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1304T>C (p.Leu435Ser) rs1565382166
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter) rs2080097197
NM_000051.4(ATM):c.1364T>C (p.Val455Ala) rs876658772
NM_000051.4(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg) rs770028453
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.4(ATM):c.164T>G (p.Leu55Trp) rs1565344888
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn) rs1343017824
NM_000051.4(ATM):c.218A>C (p.Glu73Ala)
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn) rs2080482083
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2250+7G>A rs752009031
NM_000051.4(ATM):c.2251-7A>G rs879254103
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg) rs2135408164
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu) rs2080695332
NM_000051.4(ATM):c.2434A>G (p.Met812Val) rs112357985
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2579A>T (p.Asp860Val) rs761251711
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2638+7A>G rs1555082379
NM_000051.4(ATM):c.2638+9A>T rs761592414
NM_000051.4(ATM):c.2639-377T>G
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro) rs1411479824
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.2739C>T (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2839-1G>T
NM_000051.4(ATM):c.2839-579A>T
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys) rs587779827
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2922-9_2922-8dup rs373881770
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr) rs1397754737
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3146dup (p.Leu1049fs) rs1565427961
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val) rs762810180
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.331+1G>T
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.3403-3A>C rs374866638
NM_000051.4(ATM):c.3612A>C (p.Arg1204Ser) rs2135687499
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr) rs2079238248
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4121C>T (p.Pro1374Leu)
NM_000051.4(ATM):c.4151A>C (p.His1384Pro) rs757172522
NM_000051.4(ATM):c.4377A>C (p.Gly1459=) rs1565456710
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.4410T>G (p.Tyr1470Ter) rs1057521912
NM_000051.4(ATM):c.4443T>C (p.Ser1481=) rs2135797265
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg) rs1060501576
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met) rs781539071
NM_000051.4(ATM):c.4612-3_4616del rs773012957
NM_000051.4(ATM):c.4917G>T (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.4929del (p.Met1644fs) rs2083175858
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser) rs372679141
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5192C>T (p.Ser1731Leu) rs886039627
NM_000051.4(ATM):c.5248T>C (p.Trp1750Arg) rs2546973368
NM_000051.4(ATM):c.5263A>G (p.Met1755Val) rs876659150
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser) rs149569091
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro) rs762304746
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5685C>T (p.His1895=) rs889445709
NM_000051.4(ATM):c.590_591delinsAT (p.Gly197Asp)
NM_000051.4(ATM):c.640T>A (p.Ser214Thr)
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.84_85del (p.Lys29fs) rs2078817543
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735

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