ClinVar Miner

List of variants in gene ALK reported as uncertain significance for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423 0.00091
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004304.5(ALK):c.469C>T (p.Pro157Ser) rs74774946 0.00055
NM_004304.5(ALK):c.3080C>T (p.Pro1027Leu) rs140733978 0.00054
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_004304.5(ALK):c.4186G>A (p.Ala1396Thr) rs201768549 0.00028
NM_004304.5(ALK):c.4646G>T (p.Arg1549Ile) rs199646095 0.00027
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612 0.00026
NM_004304.5(ALK):c.3691C>T (p.Arg1231Trp) rs771475772 0.00024
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004304.5(ALK):c.1148A>T (p.Lys383Met) rs140928266 0.00020
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004304.5(ALK):c.2554A>G (p.Lys852Glu) rs371441614 0.00016
NM_004304.5(ALK):c.4275G>A (p.Leu1425=) rs749418931 0.00015
NM_004304.5(ALK):c.4193C>T (p.Pro1398Leu) rs531490912 0.00014
NM_004304.5(ALK):c.470C>T (p.Pro157Leu) rs775385954 0.00013
NM_004304.5(ALK):c.4795C>T (p.Pro1599Ser) rs373037272 0.00013
NM_004304.5(ALK):c.1283-5T>C rs377214413 0.00012
NM_004304.5(ALK):c.1918G>A (p.Gly640Arg) rs144453491 0.00012
NM_004304.5(ALK):c.692C>G (p.Thr231Arg) rs142120301 0.00012
NM_004304.5(ALK):c.3599C>T (p.Ala1200Val) rs200585833 0.00011
NM_004304.5(ALK):c.808T>C (p.Phe270Leu) rs143229596 0.00011
NM_004304.5(ALK):c.3692G>A (p.Arg1231Gln) rs200110351 0.00010
NM_004304.5(ALK):c.1390G>A (p.Gly464Arg) rs55706535 0.00009
NM_004304.5(ALK):c.1550A>G (p.His517Arg) rs367674546 0.00008
NM_004304.5(ALK):c.2275G>A (p.Val759Met) rs199691702 0.00008
NM_004304.5(ALK):c.2504C>T (p.Pro835Leu) rs376091121 0.00008
NM_004304.5(ALK):c.3133G>A (p.Val1045Met) rs200641396 0.00008
NM_004304.5(ALK):c.3179G>A (p.Arg1060His) rs769322016 0.00008
NM_004304.5(ALK):c.3362G>A (p.Gly1121Asp) rs55760835 0.00008
NM_004304.5(ALK):c.2623G>A (p.Gly875Arg) rs148001139 0.00007
NM_004304.5(ALK):c.3115G>A (p.Val1039Met) rs200080181 0.00007
NM_004304.5(ALK):c.3160G>A (p.Gly1054Ser) rs375889530 0.00007
NM_004304.5(ALK):c.3182G>A (p.Arg1061Gln) rs72852032 0.00007
NM_004304.5(ALK):c.1184G>A (p.Arg395His) rs769910087 0.00006
NM_004304.5(ALK):c.1235G>A (p.Arg412His) rs1388736375 0.00006
NM_004304.5(ALK):c.3409G>A (p.Gly1137Arg) rs762571775 0.00006
NM_004304.5(ALK):c.760C>T (p.Pro254Ser) rs774815140 0.00006
NM_004304.5(ALK):c.206G>A (p.Arg69Gln) rs769061878 0.00005
NM_004304.5(ALK):c.3338G>A (p.Arg1113Gln) rs199987354 0.00005
NM_004304.5(ALK):c.350C>G (p.Pro117Arg) rs201290745 0.00005
NM_004304.5(ALK):c.1045G>A (p.Val349Ile) rs370848188 0.00004
NM_004304.5(ALK):c.1270A>G (p.Asn424Asp) rs771340984 0.00004
NM_004304.5(ALK):c.1670G>A (p.Arg557His) rs200468507 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004304.5(ALK):c.2258G>A (p.Arg753Gln) rs187200776 0.00004
NM_004304.5(ALK):c.32C>T (p.Pro11Leu) rs767822322 0.00004
NM_004304.5(ALK):c.4238T>G (p.Val1413Gly) rs779318085 0.00004
NM_004304.5(ALK):c.4433T>C (p.Met1478Thr) rs141010693 0.00004
NM_004304.5(ALK):c.4738G>A (p.Gly1580Arg) rs370947313 0.00004
NM_004304.5(ALK):c.640C>T (p.Arg214Cys) rs370297427 0.00004
NM_004304.5(ALK):c.119C>T (p.Pro40Leu) rs200212200 0.00003
NM_004304.5(ALK):c.2548G>A (p.Gly850Arg) rs200563480 0.00003
NM_004304.5(ALK):c.298A>G (p.Arg100Gly) rs764559656 0.00003
NM_004304.5(ALK):c.3210G>A (p.Gln1070=) rs138178848 0.00003
NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter) rs145028315 0.00003
NM_004304.5(ALK):c.4481G>A (p.Gly1494Glu) rs368484630 0.00003
NM_004304.5(ALK):c.4537G>A (p.Glu1513Lys) rs374733353 0.00003
NM_004304.5(ALK):c.2654A>G (p.Asp885Gly) rs745406091 0.00002
NM_004304.5(ALK):c.2770G>C (p.Gly924Arg) rs78086548 0.00002
NM_004304.5(ALK):c.4406C>T (p.Pro1469Leu) rs758625575 0.00002
NM_004304.5(ALK):c.4723C>T (p.Arg1575Cys) rs148351049 0.00002
NM_004304.5(ALK):c.4748A>G (p.Asn1583Ser) rs751677905 0.00002
NM_004304.5(ALK):c.871C>T (p.Arg291Cys) rs748854412 0.00002
NM_004304.5(ALK):c.1007C>T (p.Pro336Leu) rs1450440625 0.00001
NM_004304.5(ALK):c.1043C>A (p.Ala348Asp) rs760596486 0.00001
NM_004304.5(ALK):c.1114G>A (p.Ala372Thr) rs753549939 0.00001
NM_004304.5(ALK):c.1180G>A (p.Gly394Arg) rs775514690 0.00001
NM_004304.5(ALK):c.1311G>A (p.Leu437=) rs757241673 0.00001
NM_004304.5(ALK):c.131T>G (p.Leu44Arg) rs1304641292 0.00001
NM_004304.5(ALK):c.140C>T (p.Ser47Leu) rs541315214 0.00001
NM_004304.5(ALK):c.149A>G (p.Gln50Arg) rs1060500222 0.00001
NM_004304.5(ALK):c.1720G>A (p.Gly574Arg) rs762358335 0.00001
NM_004304.5(ALK):c.1725G>C (p.Lys575Asn) rs1010580453 0.00001
NM_004304.5(ALK):c.1753G>A (p.Ala585Thr) rs772496459 0.00001
NM_004304.5(ALK):c.1756G>A (p.Ala586Thr) rs75158395 0.00001
NM_004304.5(ALK):c.1803del (p.Asp602fs) rs926903893 0.00001
NM_004304.5(ALK):c.202G>T (p.Ala68Ser) rs1414978905 0.00001
NM_004304.5(ALK):c.2041+4A>G rs1172214438 0.00001
NM_004304.5(ALK):c.2110G>A (p.Ala704Thr) rs34829159 0.00001
NM_004304.5(ALK):c.2269G>A (p.Val757Met) rs371005946 0.00001
NM_004304.5(ALK):c.2597C>T (p.Ser866Leu) rs528844155 0.00001
NM_004304.5(ALK):c.2710C>T (p.His904Tyr) rs1474942302 0.00001
NM_004304.5(ALK):c.2736G>A (p.Lys912=) rs1489025810 0.00001
NM_004304.5(ALK):c.2822A>G (p.Asn941Ser) rs368654781 0.00001
NM_004304.5(ALK):c.3095C>T (p.Pro1032Leu) rs752256731 0.00001
NM_004304.5(ALK):c.3135G>A (p.Val1045=) rs371735276 0.00001
NM_004304.5(ALK):c.3173T>C (p.Val1058Ala) rs772708400 0.00001
NM_004304.5(ALK):c.3236A>C (p.Lys1079Thr) rs754163075 0.00001
NM_004304.5(ALK):c.3260C>T (p.Thr1087Ile) rs113994090 0.00001
NM_004304.5(ALK):c.3313A>G (p.Ile1105Val) rs1426033956 0.00001
NM_004304.5(ALK):c.3548T>C (p.Ile1183Thr) rs1002995598 0.00001
NM_004304.5(ALK):c.3626G>A (p.Arg1209Gln) rs747643140 0.00001
NM_004304.5(ALK):c.3839C>T (p.Ala1280Val) rs74716434 0.00001
NM_004304.5(ALK):c.3842G>A (p.Ser1281Asn) rs761459938 0.00001
NM_004304.5(ALK):c.3958T>C (p.Trp1320Arg) rs779796155 0.00001
NM_004304.5(ALK):c.4015C>G (p.Leu1339Val) rs1416439647 0.00001
NM_004304.5(ALK):c.4226A>G (p.Glu1409Gly) rs1286165795 0.00001
NM_004304.5(ALK):c.4248G>T (p.Lys1416Asn) rs55782189 0.00001
NM_004304.5(ALK):c.434T>C (p.Leu145Pro) rs1305698643 0.00001
NM_004304.5(ALK):c.4632C>A (p.Asn1544Lys) rs763403897 0.00001
NM_004304.5(ALK):c.4658C>G (p.Ala1553Gly) rs1553386898 0.00001
NM_004304.5(ALK):c.4685T>G (p.Leu1562Arg) rs974930400 0.00001
NM_004304.5(ALK):c.522C>A (p.Phe174Leu) rs587778020 0.00001
NM_004304.5(ALK):c.630C>G (p.Ala210=) rs1337002578 0.00001
NM_004304.5(ALK):c.655A>G (p.Ile219Val) rs886055932 0.00001
NM_004304.5(ALK):c.775C>T (p.Arg259Cys) rs771593278 0.00001
NM_004304.5(ALK):c.94C>G (p.Pro32Ala) rs573276657 0.00001
GRCh37/hg19 2p23.1(chr2:30063188-30290288)x3
GRCh37/hg19 2p23.2(chr2:29428149-29486280)x1
NM_004304.5(ALK):c.107C>A (p.Pro36Gln) rs773691688
NM_004304.5(ALK):c.1154+1G>A rs766100418
NM_004304.5(ALK):c.1223C>G (p.Ser408Cys) rs1348960950
NM_004304.5(ALK):c.1229G>A (p.Gly410Glu) rs760717114
NM_004304.5(ALK):c.1361C>T (p.Ala454Val) rs766818130
NM_004304.5(ALK):c.1414+2T>G
NM_004304.5(ALK):c.1432T>A (p.Phe478Ile) rs1667016994
NM_004304.5(ALK):c.1489C>T (p.His497Tyr) rs2148250941
NM_004304.5(ALK):c.1507G>A (p.Val503Ile) rs1229156257
NM_004304.5(ALK):c.151A>G (p.Arg51Gly) rs904831964
NM_004304.5(ALK):c.1574A>G (p.Asp525Gly) rs1666896402
NM_004304.5(ALK):c.1635C>G (p.Ser545Arg) rs1666893501
NM_004304.5(ALK):c.1766G>C (p.Gly589Ala) rs769505453
NM_004304.5(ALK):c.1834G>A (p.Val612Ile) rs1431784023
NM_004304.5(ALK):c.1842G>C (p.Trp614Cys)
NM_004304.5(ALK):c.1867G>T (p.Val623Leu)
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg) rs370435082
NM_004304.5(ALK):c.2122T>G (p.Ser708Ala)
NM_004304.5(ALK):c.2155C>T (p.Pro719Ser) rs759652463
NM_004304.5(ALK):c.2453G>A (p.Gly818Glu)
NM_004304.5(ALK):c.2488-2A>G
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.2762T>G (p.Phe921Cys) rs1170626086
NM_004304.5(ALK):c.2769G>A (p.Gly923=) rs75434768
NM_004304.5(ALK):c.2824G>A (p.Ala942Thr) rs1664046731
NM_004304.5(ALK):c.2841C>G (p.Asp947Glu)
NM_004304.5(ALK):c.2901C>A (p.Thr967=) rs886055930
NM_004304.5(ALK):c.2979C>A (p.Asp993Glu) rs761999849
NM_004304.5(ALK):c.3115G>C (p.Val1039Leu) rs200080181
NM_004304.5(ALK):c.3137C>T (p.Ala1046Val)
NM_004304.5(ALK):c.3380T>C (p.Phe1127Ser)
NM_004304.5(ALK):c.3458C>G (p.Pro1153Arg) rs917295547
NM_004304.5(ALK):c.3479A>G (p.Asp1160Gly)
NM_004304.5(ALK):c.3530A>C (p.Gln1177Pro) rs1060500229
NM_004304.5(ALK):c.355G>A (p.Glu119Lys) rs1572503350
NM_004304.5(ALK):c.3646-3C>T rs1060500208
NM_004304.5(ALK):c.3684C>G (p.His1228Gln) rs763332339
NM_004304.5(ALK):c.3704G>A (p.Cys1235Tyr) rs2148159392
NM_004304.5(ALK):c.3744-2A>G rs2148155402
NM_004304.5(ALK):c.3766C>T (p.Leu1256Phe)
NM_004304.5(ALK):c.3855G>T (p.Lys1285Asn)
NM_004304.5(ALK):c.385G>A (p.Gly129Ser) rs1553380334
NM_004304.5(ALK):c.3938G>A (p.Trp1313Ter) rs1573098889
NM_004304.5(ALK):c.3947G>A (p.Gly1316Glu) rs1285677926
NM_004304.5(ALK):c.4074-13CTT[2] rs2148141994
NM_004304.5(ALK):c.4210C>T (p.Leu1404Phe) rs757615099
NM_004304.5(ALK):c.4262T>G (p.Val1421Gly) rs1472924406
NM_004304.5(ALK):c.4288G>T (p.Ala1430Ser)
NM_004304.5(ALK):c.4390C>T (p.Arg1464Ter)
NM_004304.5(ALK):c.4393G>C (p.Val1465Leu) rs769128867
NM_004304.5(ALK):c.44_49delinsACACGA (p.Ser15_Ala17delinsTyrThrThr)
NM_004304.5(ALK):c.4570AAG[1] (p.Lys1525del) rs755556501
NM_004304.5(ALK):c.4810T>C (p.Tyr1604His)
NM_004304.5(ALK):c.4836G>C (p.Lys1612Asn) rs78174819
NM_004304.5(ALK):c.4860_*12del (p.Ter1621LeuextTer?) rs1456617295
NM_004304.5(ALK):c.592G>C (p.Val198Leu)
NM_004304.5(ALK):c.616G>A (p.Ala206Thr) rs141093002
NM_004304.5(ALK):c.782G>A (p.Arg261Gln) rs375097381
NM_004304.5(ALK):c.782G>T (p.Arg261Leu) rs375097381
NM_004304.5(ALK):c.788G>A (p.Gly263Asp)
NM_004304.5(ALK):c.858G>C (p.Gln286His)
NM_004304.5(ALK):c.874C>T (p.Arg292Cys) rs201750304
NM_004304.5(ALK):c.926C>T (p.Ala309Val) rs748017801
NM_004304.5(ALK):c.952+1G>A rs1678504706
NM_004304.5(ALK):c.952+3A>G rs1200110360

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