ClinVar Miner

List of variants in gene NTRK1 reported as pathogenic

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Total variants: 56
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HGVS dbSNP
NM_001007792.1(NTRK1):c.1179C>A (p.Cys393Ter)
NM_001007792.1(NTRK1):c.1202_1205dup (p.Leu403fs) rs1558105252
NM_001007792.1(NTRK1):c.123-3213_123-3212del rs398122810
NM_001007792.1(NTRK1):c.123-3395C>T rs80356673
NM_001007792.1(NTRK1):c.123-3419A>C
NM_001007792.1(NTRK1):c.1336A>T (p.Lys446Ter) rs879253890
NM_001007792.1(NTRK1):c.136_139dup (p.Gln47fs)
NM_001007792.1(NTRK1):c.141del (p.Gln47fs)
NM_001007792.1(NTRK1):c.1551del (p.Arg518fs) rs1363364803
NM_001007792.1(NTRK1):c.1552del (p.Arg518fs) rs80356675
NM_001007792.1(NTRK1):c.1621G>C (p.Gly541Arg) rs121964866
NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val) rs121964870
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter) rs763758904
NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr) rs6336
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs) rs80356676
NM_001007792.1(NTRK1):c.1837C>T (p.Arg613Trp)
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys) rs764992664
NM_001007792.1(NTRK1):c.1912G>T (p.Asp638Tyr) rs80356677
NM_001007792.1(NTRK1):c.1938+3A>C rs914061514
NM_001007792.1(NTRK1):c.1947_1950dup (p.Thr651fs)
NM_001007792.1(NTRK1):c.197+2dup
NM_001007792.1(NTRK1):c.1976C>T (p.Pro659Leu) rs121964868
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu) rs756981419
NM_001007792.1(NTRK1):c.2231G>C (p.Arg744Pro) rs35669708
NM_001007792.1(NTRK1):c.306G>A (p.Trp102Ter) rs747976486
NM_001007792.1(NTRK1):c.334G>T (p.Glu112Ter) rs370483210
NM_001007792.1(NTRK1):c.339-1G>C rs748672380
NM_001007792.1(NTRK1):c.388C>T (p.Gln130Ter)
NM_001007792.1(NTRK1):c.436C>T (p.Gln146Ter) rs879253889
NM_001007792.1(NTRK1):c.448C>T (p.Gln150Ter) rs1571689751
NM_001007792.1(NTRK1):c.453del (p.Leu153fs) rs1485714154
NM_001007792.1(NTRK1):c.484+1G>A rs1232901259
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro) rs747711259
NM_001007792.1(NTRK1):c.761-33T>A rs80356674
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) rs1571695851
NM_001007792.1(NTRK1):c.941_953del (p.Gly314fs) rs1571696060
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) rs121964869
NM_001012331.1(NTRK1):c.575delG rs1571690112
NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]
NM_002529.3(NTRK1):c.1354+13_1634del
NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu) rs606231467
NM_002529.3(NTRK1):c.360-2A>C rs797045059
NM_002529.3(NTRK1):c.717+4A>T rs606231466
NM_002529.4(NTRK1):c.1294del (p.Leu432fs)
NM_002529.4(NTRK1):c.1649_1650insGGCAGGAAGTCGGCACTGAA (p.Glu551_Ser552insAlaGlySerArgHisTer)
NM_002529.4(NTRK1):c.1796_1803dup (p.Arg602fs)
NM_002529.4(NTRK1):c.1877dup (p.Leu627fs)
NM_002529.4(NTRK1):c.2025_2026del (p.Tyr676fs)
NM_002529.4(NTRK1):c.2133G>A (p.Trp711Ter)
NM_002529.4(NTRK1):c.229C>T (p.Gln77Ter)
NM_002529.4(NTRK1):c.575-19G>A
NM_002529.4(NTRK1):c.989_990del (p.Thr330fs)
NTRK1, 1-BP INS, 1926T
NTRK1, IVS4, G-C, -1 AND ARG85SER
NTRK1, IVS7AS, T-A, -33

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