ClinVar Miner

List of variants in gene NTRK1 studied for Inborn genetic diseases

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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_002529.4(NTRK1):c.157G>C (p.Asp53His) rs200815412 0.00187
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_002529.4(NTRK1):c.611C>T (p.Ser204Leu) rs148324672 0.00104
NM_002529.4(NTRK1):c.2142C>T (p.Gly714=) rs145139769 0.00064
NM_002529.4(NTRK1):c.602C>A (p.Pro201His) rs146201511 0.00061
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys) rs147443162 0.00050
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_002529.4(NTRK1):c.295G>A (p.Val99Met) rs201509045 0.00029
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) rs201185829 0.00027
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) rs200132482 0.00023
NM_002529.4(NTRK1):c.630C>T (p.Asp210=) rs147882947 0.00021
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 0.00017
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) rs372041586 0.00016
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) rs552776147 0.00014
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.1747C>T (p.Arg583Cys) rs371344688 0.00013
NM_002529.4(NTRK1):c.236T>A (p.Leu79Gln) rs139140006 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) rs750968694 0.00012
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002529.4(NTRK1):c.279G>A (p.Leu93=) rs147983523 0.00011
NM_002529.4(NTRK1):c.1161C>T (p.Pro387=) rs536619715 0.00010
NM_002529.4(NTRK1):c.1354C>T (p.Arg452Cys) rs34900547 0.00010
NM_002529.4(NTRK1):c.1741G>A (p.Glu581Lys) rs150579345 0.00010
NM_002529.4(NTRK1):c.185T>C (p.Leu62Pro) rs766307207 0.00010
NM_002529.4(NTRK1):c.711G>A (p.Thr237=) rs537430475 0.00010
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) rs754452975 0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002529.4(NTRK1):c.563A>G (p.Asn188Ser) rs531080009 0.00008
NM_002529.4(NTRK1):c.585G>A (p.Thr195=) rs182531655 0.00007
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) rs200575096 0.00006
NM_002529.4(NTRK1):c.2113A>T (p.Thr705Ser) rs200935209 0.00006
NM_002529.4(NTRK1):c.470G>A (p.Arg157His) rs141021604 0.00006
NM_002529.4(NTRK1):c.844G>A (p.Val282Ile) rs774654606 0.00006
NM_002529.4(NTRK1):c.1557C>T (p.Gly519=) rs564775946 0.00005
NM_002529.4(NTRK1):c.1939G>T (p.Val647Leu) rs142870382 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 0.00005
NM_002529.4(NTRK1):c.787G>A (p.Val263Met) rs201509717 0.00005
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) rs762942184 0.00004
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His) rs775718859 0.00004
NM_002529.4(NTRK1):c.2085G>A (p.Pro695=) rs377730927 0.00004
NM_002529.4(NTRK1):c.2334C>T (p.His778=) rs370504033 0.00004
NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His) rs750111437 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 0.00004
NM_002529.4(NTRK1):c.356G>A (p.Arg119His) rs778566154 0.00004
NM_002529.4(NTRK1):c.1004C>T (p.Pro335Leu) rs758490619 0.00003
NM_002529.4(NTRK1):c.1480C>A (p.Pro494Thr) rs764737760 0.00003
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln) rs748133401 0.00003
NM_002529.4(NTRK1):c.1795C>T (p.Arg599Cys) rs772229945 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) rs778520978 0.00003
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp) rs537948663 0.00003
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) rs772156529 0.00003
NM_002529.4(NTRK1):c.239A>G (p.Gln80Arg) rs55891455 0.00003
NM_002529.4(NTRK1):c.253C>T (p.Arg85Cys) rs543320028 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln) rs199826686 0.00002
NM_002529.4(NTRK1):c.1301C>T (p.Thr434Met) rs771342578 0.00002
NM_002529.4(NTRK1):c.1777C>T (p.Arg593Trp) rs781209572 0.00002
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) rs140852621 0.00002
NM_002529.4(NTRK1):c.2368G>A (p.Val790Ile) rs55948542 0.00002
NM_002529.4(NTRK1):c.360-4G>A rs761530159 0.00002
NM_002529.4(NTRK1):c.366C>G (p.Leu122=) rs764843161 0.00002
NM_002529.4(NTRK1):c.531T>C (p.Cys177=) rs1057523619 0.00002
NM_002529.4(NTRK1):c.549G>T (p.Leu183=) rs756232321 0.00002
NM_002529.4(NTRK1):c.941G>A (p.Arg314His) rs368769883 0.00002
NM_002529.4(NTRK1):c.957C>T (p.Gly319=) rs772764828 0.00002
NM_002529.4(NTRK1):c.103C>T (p.Pro35Ser) rs1204319733 0.00001
NM_002529.4(NTRK1):c.1189C>A (p.Pro397Thr) rs767630555 0.00001
NM_002529.4(NTRK1):c.1220C>T (p.Pro407Leu) rs750799657 0.00001
NM_002529.4(NTRK1):c.1276G>A (p.Val426Ile) rs986498490 0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) rs200937156 0.00001
NM_002529.4(NTRK1):c.1437C>T (p.Thr479=) rs770948722 0.00001
NM_002529.4(NTRK1):c.1528A>T (p.Ile510Phe) rs781478411 0.00001
NM_002529.4(NTRK1):c.1676G>A (p.Arg559His) rs201564883 0.00001
NM_002529.4(NTRK1):c.1732G>A (p.Val578Ile) rs760764097 0.00001
NM_002529.4(NTRK1):c.1739C>G (p.Thr580Ser) rs777123174 0.00001
NM_002529.4(NTRK1):c.2067G>A (p.Leu689=) rs1057521447 0.00001
NM_002529.4(NTRK1):c.2088C>T (p.Pro696=) rs56008523 0.00001
NM_002529.4(NTRK1):c.2206-11G>A rs1553263326 0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817 0.00001
NM_002529.4(NTRK1):c.311G>A (p.Arg104His) rs578095133 0.00001
NM_002529.4(NTRK1):c.316G>A (p.Val106Met) rs763164402 0.00001
NM_002529.4(NTRK1):c.320C>T (p.Ala107Val) rs540521894 0.00001
NM_002529.4(NTRK1):c.450G>T (p.Leu150=) rs760720879 0.00001
NM_002529.4(NTRK1):c.500T>G (p.Leu167Arg) rs749711737 0.00001
NM_002529.4(NTRK1):c.590A>G (p.Lys197Arg) rs753902046 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002529.4(NTRK1):c.875C>T (p.Thr292Met) rs764645590 0.00001
NM_002529.4(NTRK1):c.878C>T (p.Ala293Val) rs567093941 0.00001
NM_002529.4(NTRK1):c.88T>C (p.Ser30Pro) rs1350547406 0.00001
NM_002529.4(NTRK1):c.97G>T (p.Ala33Ser) rs777913530 0.00001
NM_002529.4(NTRK1):c.1039C>G (p.Arg347Gly) rs561243137
NM_002529.4(NTRK1):c.1077C>T (p.Tyr359=) rs1057521034
NM_002529.4(NTRK1):c.1310T>G (p.Leu437Arg)
NM_002529.4(NTRK1):c.1354C>G (p.Arg452Gly) rs34900547
NM_002529.4(NTRK1):c.1355-4C>G rs981404213
NM_002529.4(NTRK1):c.1405A>G (p.Met469Val)
NM_002529.4(NTRK1):c.1418G>T (p.Gly473Val)
NM_002529.4(NTRK1):c.1438G>A (p.Glu480Lys)
NM_002529.4(NTRK1):c.1456C>A (p.Leu486Ile)
NM_002529.4(NTRK1):c.1504G>T (p.Val502Phe)
NM_002529.4(NTRK1):c.1522C>T (p.Arg508Trp) rs200575096
NM_002529.4(NTRK1):c.1523G>C (p.Arg508Pro)
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His) rs1035934237
NM_002529.4(NTRK1):c.1621G>T (p.Val541Leu) rs1426132695
NM_002529.4(NTRK1):c.1651G>A (p.Glu551Lys)
NM_002529.4(NTRK1):c.1675C>G (p.Arg559Gly)
NM_002529.4(NTRK1):c.1721G>A (p.Arg574His)
NM_002529.4(NTRK1):c.1882C>T (p.Leu628=) rs555107102
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) rs553270591
NM_002529.4(NTRK1):c.2011A>C (p.Met671Leu)
NM_002529.4(NTRK1):c.2019G>A (p.Arg673=) rs1553262978
NM_002529.4(NTRK1):c.2044C>T (p.Arg682Cys)
NM_002529.4(NTRK1):c.2086_2112del (p.Pro696_Phe704del) rs756614200
NM_002529.4(NTRK1):c.2088del (p.Glu697fs)
NM_002529.4(NTRK1):c.2104C>T (p.Arg702Cys)
NM_002529.4(NTRK1):c.2224C>A (p.Gln742Lys)
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.2236_2265dup (p.Leu746_Glu755dup) rs1327580455
NM_002529.4(NTRK1):c.2265G>A (p.Glu755=) rs1553263348
NM_002529.4(NTRK1):c.2387G>A (p.Gly796Asp) rs1381670284
NM_002529.4(NTRK1):c.280A>C (p.Arg94=) rs991913175
NM_002529.4(NTRK1):c.321G>T (p.Ala107=) rs774351278
NM_002529.4(NTRK1):c.377C>A (p.Ala126Asp)
NM_002529.4(NTRK1):c.394T>C (p.Trp132Arg)
NM_002529.4(NTRK1):c.396G>C (p.Trp132Cys)
NM_002529.4(NTRK1):c.406C>A (p.Gln136Lys)
NM_002529.4(NTRK1):c.424G>A (p.Glu142Lys)
NM_002529.4(NTRK1):c.429-3del rs766806139
NM_002529.4(NTRK1):c.446C>A (p.Pro149His)
NM_002529.4(NTRK1):c.453C>G (p.His151Gln) rs368564443
NM_002529.4(NTRK1):c.532C>G (p.His178Asp)
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) rs1026300967
NM_002529.4(NTRK1):c.58G>A (p.Gly20Ser)
NM_002529.4(NTRK1):c.598G>C (p.Val200Leu)
NM_002529.4(NTRK1):c.616G>A (p.Asp206Asn)
NM_002529.4(NTRK1):c.617A>T (p.Asp206Val)
NM_002529.4(NTRK1):c.623G>A (p.Gly208Glu) rs1290171656
NM_002529.4(NTRK1):c.662G>A (p.Gly221Asp) rs369478563
NM_002529.4(NTRK1):c.664C>G (p.Leu222Val)
NM_002529.4(NTRK1):c.734C>T (p.Pro245Leu)
NM_002529.4(NTRK1):c.767G>A (p.Ser256Asn)
NM_002529.4(NTRK1):c.83T>G (p.Leu28Arg)
NM_002529.4(NTRK1):c.867G>C (p.Gln289His) rs1647699293
NM_002529.4(NTRK1):c.869T>G (p.Leu290Arg)
NM_002529.4(NTRK1):c.884A>C (p.Glu295Ala)
NM_002529.4(NTRK1):c.891C>T (p.His297=) rs1553262169
NM_002529.4(NTRK1):c.89C>A (p.Ser30Tyr)
NM_002529.4(NTRK1):c.913G>A (p.Val305Met)

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