ClinVar Miner

List of variants reported for Ataxia-telangiectasia syndrome by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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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.6573-36C>T rs759869598 0.02433
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
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.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_000051.4(ATM):c.6573-30C>T rs775413448 0.00345
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.8269-14A>T rs114320959 0.00195
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.7788+8G>T rs112775908 0.00165
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.6067G>A (p.Gly2023Arg) rs11212587 0.00124
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.6860G>C (p.Gly2287Ala) rs1800061 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.2096A>G (p.Glu699Gly) rs147934285 0.00077
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.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
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.3403-14A>T rs941737393 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
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.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.3077+4G>A rs201222237 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 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.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly) rs786202089 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu) rs1196903858 0.00002
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro) rs267606669 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8152-50T>C rs762648668 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp) rs879254147 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu) rs876660730 0.00001
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn) rs1381019767 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser) rs759392666 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala) rs1555126304 0.00001
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met) rs730881321 0.00001
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser) rs764906663 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His) rs774171813 0.00001
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe) rs786203542 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NC_000011.10:g.108222768C>T rs1056339095
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4612-11A>T rs1217349031
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-13A>T rs1267116629
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4910-1G>C rs1060501706
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.5899A>G (p.Met1967Val) rs1060501541
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp) rs1565493603
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys) rs1591758642
NM_000051.4(ATM):c.6007-27C>T rs1164649351
NM_000051.4(ATM):c.6007-30C>T rs1425802573
NM_000051.4(ATM):c.6007-33C>T rs1191788183
NM_000051.4(ATM):c.6007-34C>T rs1591775892
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu) rs1565499989
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly) rs1565503023
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6348-9A>T rs1591099349
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.4(ATM):c.6404dup (p.Arg2136fs) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6573-23G>T rs1591127987
NM_000051.4(ATM):c.6573-26C>A rs1591127920
NM_000051.4(ATM):c.6573-31G>T rs1274213878
NM_000051.4(ATM):c.6573-31_6573-30del rs1216821271
NM_000051.4(ATM):c.6573-34C>T rs767824695
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT rs1591127671
NM_000051.4(ATM):c.6573-41_6573-40del rs758339884
NM_000051.4(ATM):c.6573-41del rs1271045298
NM_000051.4(ATM):c.6573-42_6573-41del rs1347499229
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro) rs1565518489
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met) rs1591133274
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu) rs777164914
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg) rs1591142078
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val) rs1555121079
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr) rs1555122117
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr) rs1360453074
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp) rs864622471
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr) rs765654550
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.7629+12_7629+15del rs1555124156
NM_000051.4(ATM):c.7630-29G>T rs1591170490
NM_000051.4(ATM):c.7630-37G>T rs1591170392
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr) rs1060501604
NM_000051.4(ATM):c.7789-15G>T rs781449587
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7789-8A>T rs1591177900
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn) rs1555125501
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr) rs878853547
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val) rs1591184384
NM_000051.4(ATM):c.8010+1del rs876659350
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly) rs759779781
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8268+1G>T rs876658957
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8313A>C (p.Thr2771=) rs1555135563
NM_000051.4(ATM):c.8484del (p.Gln2828fs) rs1565563579
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp) rs1565582275
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr) rs876659516
NM_000051.4(ATM):c.8893T>C (p.Leu2965=) rs1060504287
NM_000051.4(ATM):c.8942A>G (p.His2981Arg) rs750441954
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys) rs1591387978
NM_000051.4(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220

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