ClinVar Miner

List of variants in gene NTRK1 reported as pathogenic by Invitae

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Gene type:
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Total variants: 104
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.575-19G>A rs370828525 0.00005
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) rs369353892 0.00002
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002529.4(NTRK1):c.2074C>T (p.Arg692Cys) rs761967383 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_002529.4(NTRK1):c.1659del (p.Arg554fs) rs1363364803 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002529.4(NTRK1):c.1981G>T (p.Gly661Ter) rs1310506980 0.00001
NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) rs398122810 0.00001
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser) rs763122825 0.00001
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817 0.00001
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu) rs756981419 0.00001
NM_002529.4(NTRK1):c.2311C>T (p.Arg771Cys) rs1324983370 0.00001
NM_002529.4(NTRK1):c.574+1G>A rs1232901259 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002529.4(NTRK1):c.850+1G>C rs1647569895 0.00001
NC_000001.10:g.(?_156837886)_(156841557_?)del
NM_001012331.1(NTRK1):c.575delG rs1571690112
NM_002529.4(NTRK1):c.1025_1041dup (p.Leu348fs)
NM_002529.4(NTRK1):c.1031_1043del (p.Gly344fs) rs1571696060
NM_002529.4(NTRK1):c.1094del (p.Asn365fs) rs2102906069
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002529.4(NTRK1):c.126_127dup (p.His43fs)
NM_002529.4(NTRK1):c.1284_1291dup (p.Phe431fs)
NM_002529.4(NTRK1):c.1287C>A (p.Cys429Ter) rs1647805941
NM_002529.4(NTRK1):c.1294del (p.Leu432fs) rs2102912108
NM_002529.4(NTRK1):c.1298del (p.Ser433fs) rs2102912139
NM_002529.4(NTRK1):c.1310_1313dup (p.Leu439fs) rs1558105252
NM_002529.4(NTRK1):c.1354+1G>A rs764771898
NM_002529.4(NTRK1):c.1354+1G>C
NM_002529.4(NTRK1):c.140del (p.Gly47fs)
NM_002529.4(NTRK1):c.1438G>T (p.Glu480Ter) rs139731614
NM_002529.4(NTRK1):c.1519_1531dup (p.Val511fs)
NM_002529.4(NTRK1):c.1543del (p.Glu515fs)
NM_002529.4(NTRK1):c.1552del (p.Glu518fs) rs869026199
NM_002529.4(NTRK1):c.1633-1G>A rs1571699664
NM_002529.4(NTRK1):c.1649_1650insGGCAGGAAGTCGGCACTGAA (p.Ser550_Glu551insAlaGlySerArgHisTer) rs2102919112
NM_002529.4(NTRK1):c.1660del (p.Arg554fs) rs80356675
NM_002529.4(NTRK1):c.1706_1707dup (p.Gln570fs)
NM_002529.4(NTRK1):c.1710_1738del (p.Gln570fs)
NM_002529.4(NTRK1):c.1727_1735del (p.Phe576_Val578del)
NM_002529.4(NTRK1):c.1729G>A (p.Gly577Ser)
NM_002529.4(NTRK1):c.1730_1736dup (p.Cys579fs)
NM_002529.4(NTRK1):c.1738_1777del (p.Thr580fs)
NM_002529.4(NTRK1):c.1741G>T (p.Glu581Ter)
NM_002529.4(NTRK1):c.1754del (p.Leu585fs) rs1571699945
NM_002529.4(NTRK1):c.1759A>G (p.Met587Val) rs121964870
NM_002529.4(NTRK1):c.1767dup (p.Glu590Ter)
NM_002529.4(NTRK1):c.1773T>G (p.Tyr591Ter)
NM_002529.4(NTRK1):c.1796_1803dup (p.Arg602fs) rs2102920071
NM_002529.4(NTRK1):c.1801dup (p.Leu601fs)
NM_002529.4(NTRK1):c.1804del (p.Arg602fs) rs2102920143
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.1843G>T (p.Glu615Ter)
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.1875del (p.Gln626fs)
NM_002529.4(NTRK1):c.1876C>T (p.Gln626Ter)
NM_002529.4(NTRK1):c.1877dup (p.Leu627fs) rs774533432
NM_002529.4(NTRK1):c.200del (p.Asn67fs)
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2025_2026del (p.Tyr676fs) rs2102925213
NM_002529.4(NTRK1):c.2046+3A>C rs914061514
NM_002529.4(NTRK1):c.2046dup (p.Val683fs) rs2102925337
NM_002529.4(NTRK1):c.2055_2058dup (p.Thr687fs) rs1648159596
NM_002529.4(NTRK1):c.2059_2086del (p.Thr687fs)
NM_002529.4(NTRK1):c.2078G>A (p.Trp693Ter) rs1648162011
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.4(NTRK1):c.2104dup (p.Arg702fs)
NM_002529.4(NTRK1):c.2133G>A (p.Trp711Ter) rs1393272944
NM_002529.4(NTRK1):c.2140G>A (p.Gly714Ser)
NM_002529.4(NTRK1):c.2143del (p.Val715fs) rs1648170217
NM_002529.4(NTRK1):c.2231_2286del (p.Arg744fs)
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.2233G>T (p.Glu745Ter)
NM_002529.4(NTRK1):c.226C>T (p.Gln76Ter)
NM_002529.4(NTRK1):c.226_229dup (p.Gln77fs) rs1655824699
NM_002529.4(NTRK1):c.229C>T (p.Gln77Ter) rs2102885187
NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter) rs764816792
NM_002529.4(NTRK1):c.231del (p.Gln77fs) rs1655825221
NM_002529.4(NTRK1):c.268_277del (p.Gly89_Leu90insTer)
NM_002529.4(NTRK1):c.274G>T (p.Glu92Ter)
NM_002529.4(NTRK1):c.396G>A (p.Trp132Ter) rs747976486
NM_002529.4(NTRK1):c.424G>T (p.Glu142Ter) rs370483210
NM_002529.4(NTRK1):c.447_450dup (p.His151fs)
NM_002529.4(NTRK1):c.461dup (p.Cys154fs)
NM_002529.4(NTRK1):c.474del (p.Trp158fs)
NM_002529.4(NTRK1):c.478C>T (p.Gln160Ter) rs1647277529
NM_002529.4(NTRK1):c.513del (p.Glu172fs) rs2102893113
NM_002529.4(NTRK1):c.526C>T (p.Gln176Ter) rs879253889
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter) rs1571689751
NM_002529.4(NTRK1):c.543del (p.Leu183fs) rs1485714154
NM_002529.4(NTRK1):c.574+1G>T
NM_002529.4(NTRK1):c.595C>T (p.Gln199Ter) rs2102894271
NM_002529.4(NTRK1):c.788dup (p.Thr264fs) rs2102900184
NM_002529.4(NTRK1):c.850+1G>A rs1647569895
NM_002529.4(NTRK1):c.851-798_851-794delinsTCAGG
NM_002529.4(NTRK1):c.874_875del (p.Thr292fs)
NM_002529.4(NTRK1):c.914del (p.Val305fs)
NM_002529.4(NTRK1):c.922C>T (p.Gln308Ter)
NM_002529.4(NTRK1):c.924_930del (p.Gln308fs) rs1571695851
NM_002529.4(NTRK1):c.945_949del (p.Trp315fs)
NM_002529.4(NTRK1):c.989_990del (p.Thr330fs) rs2102905446

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