ClinVar Miner

List of variants in gene ATM reported as likely benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 397
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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.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
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.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
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.2124+303A>C rs4987953 0.01539
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.-30-180C>T rs4987897 0.01399
NM_000051.4(ATM):c.1803-154G>A rs55760417 0.01396
NM_000051.4(ATM):c.1236-193C>T rs4987942 0.01394
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.5496+294T>A rs4988040 0.01393
NM_000051.4(ATM):c.5178-150T>C rs4988035 0.01391
NM_000051.4(ATM):c.3403-34T>A rs148368017 0.01280
NM_000051.4(ATM):c.185+246T>A rs4987899 0.01239
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_000051.4(ATM):c.5762+119G>A rs4988059 0.01175
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_000051.4(ATM):c.3402+70A>G rs3218671 0.01120
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_000051.4(ATM):c.1066-57G>A rs4987935 0.00993
NM_000051.4(ATM):c.497-2686C>T rs58745314 0.00975
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_000051.4(ATM):c.2839-337G>A rs4987980 0.00926
NM_000051.4(ATM):c.2250+78G>A rs2235010 0.00903
NM_000051.4(ATM):c.5674+102A>G rs4988045 0.00901
NM_000051.4(ATM):c.3077+61G>A rs3218679 0.00895
NM_000051.4(ATM):c.5320-171C>A rs138237074 0.00864
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000051.4(ATM):c.1066-230A>G rs144307279 0.00836
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.2839-384T>A rs4987979 0.00733
NM_000051.4(ATM):c.5320-285A>C rs4988038 0.00731
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_000051.4(ATM):c.901+99C>A rs1800755 0.00711
NM_000051.4(ATM):c.2124+109A>G rs4987952 0.00662
NM_000051.4(ATM):c.497-2423T>G rs56075601 0.00649
NM_000051.4(ATM):c.1802+273G>A rs139045926 0.00643
NM_000051.4(ATM):c.3994-121del rs56013141 0.00643
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_000051.4(ATM):c.332-158T>A rs76066256 0.00605
NM_000051.4(ATM):c.4042T>C (p.Leu1348=) rs56355831 0.00599
NM_000051.4(ATM):c.497-2482A>G rs78813088 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000051.4(ATM):c.497-316A>G rs147476994 0.00556
NM_000051.4(ATM):c.2838+291A>G rs189872799 0.00520
NM_000051.4(ATM):c.1608-194T>C rs4987944 0.00515
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.5005+21_5005+22insGC rs547799081 0.00378
NM_000051.4(ATM):c.5320-74T>C rs56260201 0.00366
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000051.4(ATM):c.5319+150A>C rs80195777 0.00339
NM_000051.4(ATM):c.5006-275G>A rs4988028 0.00335
NM_000051.4(ATM):c.5497-168T>C rs142080730 0.00329
NM_000051.4(ATM):c.3077+209C>G rs184668394 0.00325
NM_000051.4(ATM):c.2466+87T>G rs145659155 0.00304
NM_000051.4(ATM):c.5006-198C>T rs4988029 0.00301
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.-30-44T>C rs56096834 0.00230
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.2608A>G (p.Asn870Asp) rs61734354 0.00146
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.5005+43G>A rs144753630 0.00116
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.2125-88T>A rs189045169 0.00098
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.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
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.3403-184T>C rs1020943455 0.00064
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.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.2250+75T>C rs2235009 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.4109+54A>T rs181020146 0.00040
NM_000051.4(ATM):c.2922-23C>A rs571402682 0.00034
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.4949A>G (p.Asn1650Ser) rs55870064 0.00030
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 0.00026
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00024
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.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.3994-111C>G rs879004695 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000051.4(ATM):c.2467-31T>C rs141761716 0.00017
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala) rs587781812 0.00017
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
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.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 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.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000051.4(ATM):c.663-43T>A rs4987918 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.496+4T>C rs587781375 0.00007
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.115A>G (p.Thr39Ala) rs779297339 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.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4109+6T>C rs368606937 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.-18G>A rs374303671 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.2124+21A>G rs770563728 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.3102T>C (p.Tyr1034=) rs780240314 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.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.4146A>G (p.Pro1382=) rs147738621 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.1332C>A (p.Pro444=) rs763361384 0.00003
NM_000051.4(ATM):c.1368A>G (p.Leu456=) rs750579940 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
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.4008C>T (p.Phe1336=) rs748055132 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.496+20G>C rs751245102 0.00003
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2085G>A (p.Leu695=) rs786202229 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.3219A>G (p.Val1073=) rs752849892 0.00002
NM_000051.4(ATM):c.3285-15C>T rs770928986 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.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.4050G>A (p.Thr1350=) rs770697446 0.00002
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile) rs587779838 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.4626G>A (p.Leu1542=) rs786202784 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.-14T>C rs766166610 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1197C>T (p.His399=) rs786201131 0.00001
NM_000051.4(ATM):c.1317A>G (p.Leu439=) rs1232968268 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1494G>A (p.Glu498=) rs763108858 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1656A>G (p.Pro552=) rs1060504275 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 0.00001
NM_000051.4(ATM):c.1893A>G (p.Pro631=) rs764702196 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2250+18A>G rs895190150 0.00001
NM_000051.4(ATM):c.2322T>C (p.Gly774=) rs769575297 0.00001
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser) rs587779820 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2577C>T (p.Asn859=) rs730881286 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2796T>C (p.Asp932=) rs1273202474 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2970T>C (p.Ile990=) rs2081569239 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3132T>C (p.Asn1044=) rs1430714562 0.00001
NM_000051.4(ATM):c.3153+49C>T rs1221844555 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.372C>A (p.Ile124=) rs773495195 0.00001
NM_000051.4(ATM):c.3994-50C>T rs753142634 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4515C>T (p.Ala1505=) rs540798997 0.00001
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His) rs587781320 0.00001
NM_000051.4(ATM):c.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.493T>C (p.Leu165=) rs878853514 0.00001
NM_000051.4(ATM):c.507T>C (p.Ser169=) rs758619186 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 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.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.753G>A (p.Val251=) rs876658806 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.876G>A (p.Pro292=) rs755860432 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.4(ATM):c.996T>C (p.Tyr332=) rs1476261420 0.00001
NC_000011.10:g.108222889A>T rs4987880
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
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.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.1296G>C (p.Leu432=) rs876658894
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
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.1356A>G (p.Thr452=) rs1555070803
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1425A>C (p.Ser475=)
NM_000051.4(ATM):c.1524T>C (p.Leu508=) rs559095379
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1802+8A>G rs766706104
NM_000051.4(ATM):c.185+16T>C rs1343329254
NM_000051.4(ATM):c.1898+10C>G rs199570442
NM_000051.4(ATM):c.1899-348_1899-344del rs200029320
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.4(ATM):c.2250+329C>A rs181049353
NM_000051.4(ATM):c.2251-115dup rs4987959
NM_000051.4(ATM):c.2253T>A (p.Ser751=)
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2376+44T>G rs777474183
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2403C>A (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.4(ATM):c.2467-277C>G rs4987967
NM_000051.4(ATM):c.2467-4G>T rs1555082048
NM_000051.4(ATM):c.2559A>T (p.Ser853=) rs2081307609
NM_000051.4(ATM):c.2638+155del rs539495734
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2639-87del rs4987970
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.2700G>A (p.Met900Ile) rs1591593939
NM_000051.4(ATM):c.2723T>C (p.Val908Ala) rs754738085
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.2839-351del rs199782940
NM_000051.4(ATM):c.2839-418TG[8] rs546616992
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2991A>G (p.Val997=) rs1203368496
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.331+69del rs11390378
NM_000051.4(ATM):c.332-159del rs535426066
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3403-14_3403-13dup rs3218681
NM_000051.4(ATM):c.3403-15_3403-14dup rs2135664759
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3456T>G (p.Ser1152=) rs2135666779
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3577-157A>C rs190528933
NM_000051.4(ATM):c.3577-242_3577-233del rs138417879
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3747-14T>G rs2082371250
NM_000051.4(ATM):c.3747-173T>C rs373028945
NM_000051.4(ATM):c.3747-304G>T rs4987991
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.4086C>T (p.Ser1362=)
NM_000051.4(ATM):c.408T>A (p.Ile136=) rs2135123307
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4377A>C (p.Gly1459=) rs1565456710
NM_000051.4(ATM):c.4436+163_4436+165dup rs201061190
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4612-122G>A rs4988009
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.497-2421_497-2418del rs370425572
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.497-4dup rs768748099
NM_000051.4(ATM):c.5005+17C>T rs200688912
NM_000051.4(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.4(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.4(ATM):c.5127G>A (p.Gln1709=) rs1057521839
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5177+68A>G rs558610972
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
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.5634G>T (p.Ser1878=) rs767070325
NM_000051.4(ATM):c.5652A>G (p.Thr1884=) rs1591718571
NM_000051.4(ATM):c.5675-4T>A rs56075338
NM_000051.4(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.4(ATM):c.5762+26C>T rs78330259
NM_000051.4(ATM):c.663-269C>G rs149955262
NM_000051.4(ATM):c.902-10T>C rs2135264378
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.975T>C (p.His325=) rs746825207

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