ClinVar Miner

List of variants in gene ATM reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
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.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
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.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.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.3(ATM):c.-371G>C rs890835455 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr) rs555219189 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.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
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.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
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.1631T>C (p.Leu544Ser) rs375754332 0.00010
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.332-3T>C rs376116157 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.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.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 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.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.3(ATM):c.-218T>A rs886047609 0.00006
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.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.3614G>A (p.Arg1205His) rs769106895 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.1837G>T (p.Val613Leu) rs200124136 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 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.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.379A>T (p.Thr127Ser) rs587781741 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr) rs766901049 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1792A>G (p.Ile598Val) rs730881343 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2258T>C (p.Met753Thr) rs587781607 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser) rs755237639 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 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.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 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.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.3(ATM):c.-282T>G rs1301840777 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys) rs750280306 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.1814A>G (p.His605Arg) rs771877351 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 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.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.210A>T (p.Lys70Asn) rs1064793030 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe) rs730881351 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu) rs752099312 0.00001
NM_000051.4(ATM):c.2889G>A (p.Met963Ile) rs35098825 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr) rs1421074475 0.00001
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val) rs876660350 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro) rs876658363 0.00001
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg) rs587781911 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met) rs863224564 0.00001
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe) rs2082378278 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891 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.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4109+10T>C rs1236628481 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu) rs141329176 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr) rs1555100432 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.488A>G (p.Gln163Arg) rs876660598 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.5319+6_5319+7del rs777478613 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 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.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 0.00001
NM_000051.4(ATM):c.680C>T (p.Ser227Leu) rs762998620 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.79G>A (p.Val27Ile) rs754770960 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NC_000011.9:g.(108114846_108115514)_(108239827_?)dup
NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
NC_000011.9:g.(108225602_108235808)_(108239830_?)dup
NM_000051.3(ATM):c.-241G>C rs1800065
NM_000051.3(ATM):c.-327T>C rs557572386
NM_000051.4(ATM):c.-1C>T rs2078804456
NM_000051.4(ATM):c.-32_-31dup rs876661223
NM_000051.4(ATM):c.100A>T (p.Ile34Phe) rs1555054094
NM_000051.4(ATM):c.1066-3C>T rs1565378708
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.4(ATM):c.1203G>C (p.Gln401His) rs1214283617
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1274C>A (p.Ala425Glu) rs1301649540
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg) rs546621356
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.137A>C (p.His46Pro) rs1591447177
NM_000051.4(ATM):c.1461T>G (p.Ile487Met) rs2080108393
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
NM_000051.4(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser) rs1165590160
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg) rs2135340121
NM_000051.4(ATM):c.165G>C (p.Leu55Phe) rs1555054230
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.4(ATM):c.1673G>T (p.Gly558Val) rs1064795257
NM_000051.4(ATM):c.1679A>T (p.Glu560Val) rs762476611
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.4(ATM):c.172G>C (p.Asp58His) rs876660661
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly) rs2080177696
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1802+35_1802+36del rs749339972
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln) rs2135365529
NM_000051.4(ATM):c.190T>G (p.Leu64Val)
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1990A>G (p.Thr664Ala) rs797045319
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn) rs1231343218
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2104C>G (p.Leu702Val) rs1555073490
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.4(ATM):c.2127T>G (p.Ile709Met) rs56252953
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.4(ATM):c.2176C>T (p.Leu726Phe) rs775266056
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys) rs1591546453
NM_000051.4(ATM):c.2337G>A (p.Met779Ile) rs1227866298
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu) rs2080695065
NM_000051.4(ATM):c.242A>G (p.Asn81Ser) rs2135034894
NM_000051.4(ATM):c.2438A>C (p.Asn813Thr)
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2467-90C>T rs2135503255
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2512A>G (p.Met838Val) rs1555082132
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.4(ATM):c.2551G>C (p.Asp851His)
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.4(ATM):c.2563A>T (p.Met855Leu) rs749844591
NM_000051.4(ATM):c.2565G>C (p.Met855Ile) rs2081308163
NM_000051.4(ATM):c.2578G>C (p.Asp860His) rs587779825
NM_000051.4(ATM):c.257C>T (p.Thr86Ile) rs755326770
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly) rs2081311812
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2639-21A>G rs2135522420
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly) rs2081381149
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr) rs1400094698
NM_000051.4(ATM):c.2716T>A (p.Leu906Met) rs368047468
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr) rs775371838
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr) rs1565419701
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.2838G>A (p.Met946Ile)
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.4(ATM):c.289A>G (p.Ile97Val) rs1565347206
NM_000051.4(ATM):c.2922-7dup rs932219783
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu) rs772327699
NM_000051.4(ATM):c.2983C>G (p.Leu995Val) rs587779831
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.3061G>C (p.Val1021Leu)
NM_000051.4(ATM):c.3078-16A>C
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr) rs748752687
NM_000051.4(ATM):c.3157G>A (p.Asp1053Asn) rs876660172
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.4(ATM):c.3205C>A (p.Pro1069Thr) rs751714261
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile) rs587780620
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro) rs2082115524
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu) rs1310591343
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3510A>G (p.Lys1170=) rs2135668576
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.3530G>A (p.Cys1177Tyr) rs587782470
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile) rs587782195
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3746+5G>C
NM_000051.4(ATM):c.3778G>A (p.Val1260Met) rs587782035
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr) rs1308232635
NM_000051.4(ATM):c.3827A>G (p.Gln1276Arg) rs770183693
NM_000051.4(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.4(ATM):c.3832G>C (p.Asp1278His) rs730881365
NM_000051.4(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp) rs2082386564
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+10C>T rs587782262
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile) rs923836140
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.4(ATM):c.4150C>A (p.His1384Asn) rs876660576
NM_000051.4(ATM):c.4236+9A>G rs1591661022
NM_000051.4(ATM):c.4237-29A>G
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4291A>C (p.Asn1431His) rs748144169
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4385C>T (p.Ala1462Val)
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.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4416G>C (p.Leu1472Phe)
NM_000051.4(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val) rs1565457035
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4532A>G (p.Asp1511Gly) rs1591674356
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr) rs1565461414
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4641A>G (p.Ile1547Met)
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly) rs1555100455
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr) rs2082922133
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4787A>G (p.His1596Arg) rs2135833806
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.489G>T (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala) rs997081415
NM_000051.4(ATM):c.498A>C (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5197G>C (p.Ala1733Pro)
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile) rs1555105650
NM_000051.4(ATM):c.523T>G (p.Tyr175Asp) rs2079697425
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.533C>T (p.Pro178Leu) rs1591499842
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val) rs746945284
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr) rs1555106445
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.5410A>C (p.Ile1804Leu)
NM_000051.4(ATM):c.5417_5422del (p.Ile1806_Lys1807del)
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile) rs760060843
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe) rs2135943227
NM_000051.4(ATM):c.5546T>C (p.Ile1849Thr) rs2135943454
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5677T>C (p.Ser1893Pro)
NM_000051.4(ATM):c.56G>A (p.Arg19Lys) rs1064793029
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly) rs2083822627
NM_000051.4(ATM):c.5G>C (p.Ser2Thr) rs730881360
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.6T>G (p.Ser2Arg) rs748158168
NM_000051.4(ATM):c.703G>A (p.Ala235Thr) rs76379269
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.773T>G (p.Ile258Ser) rs730881337
NM_000051.4(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.840T>G (p.Ile280Met) rs1591504482
NM_000051.4(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.903T>C (p.Gly301=) rs876659335
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.