ClinVar Miner

List of variants in gene NTRK1 reported as likely pathogenic

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.575-19G>A rs370828525 0.00005
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002529.4(NTRK1):c.1037T>C (p.Leu346Pro) rs150651692 0.00002
NM_002529.4(NTRK1):c.1945C>T (p.Arg649Trp) rs369353892 0.00002
NM_002529.4(NTRK1):c.1961G>A (p.Arg654His) rs750168062 0.00001
NM_002529.4(NTRK1):c.2046+1G>T rs1452844753 0.00001
NM_002529.4(NTRK1):c.2119G>A (p.Glu707Lys) rs747855434 0.00001
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) rs759190964 0.00001
NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser) rs763122825 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.2303C>T (p.Pro768Leu) rs756981419 0.00001
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His) rs780724170 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NC_000001.10:g.(?_156834818)_156837900del
NC_000001.10:g.(?_156837886)_(156843392_?)dup
NM_002529.4(NTRK1):c.1040G>C (p.Arg347Pro) rs797045060
NM_002529.4(NTRK1):c.1077C>G (p.Tyr359Ter)
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002529.4(NTRK1):c.1196-3_1196-1del rs1558104865
NM_002529.4(NTRK1):c.119_120insT (p.Cys41fs) rs1131691595
NM_002529.4(NTRK1):c.1251+1G>A
NM_002529.4(NTRK1):c.1251+1G>T
NM_002529.4(NTRK1):c.1501+1G>A rs1647858636
NM_002529.4(NTRK1):c.1501+2T>G rs2102915741
NM_002529.4(NTRK1):c.1501+5G>A rs2102915746
NM_002529.4(NTRK1):c.1592A>G (p.Asn531Ser)
NM_002529.4(NTRK1):c.1741del (p.Glu581fs)
NM_002529.4(NTRK1):c.1768G>A (p.Glu590Lys) rs1647927494
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.1828C>T (p.Leu610=)
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) rs786205449
NM_002529.4(NTRK1):c.1961G>C (p.Arg654Pro)
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2046dup (p.Val683fs) rs2102925337
NM_002529.4(NTRK1):c.2047-1G>A
NM_002529.4(NTRK1):c.2075G>A (p.Arg692His)
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.4(NTRK1):c.2092A>C (p.Ser698Arg) rs2102927297
NM_002529.4(NTRK1):c.212+2T>C
NM_002529.4(NTRK1):c.212+2T>G
NM_002529.4(NTRK1):c.213-1G>A
NM_002529.4(NTRK1):c.213-3C>A rs2102885144
NM_002529.4(NTRK1):c.2169C>A (p.Tyr723Ter) rs140852621
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.303T>A (p.Ser101Arg) rs2102886126
NM_002529.4(NTRK1):c.354_359+3del rs1571685736
NM_002529.4(NTRK1):c.359+1G>C rs2102886311
NM_002529.4(NTRK1):c.359+227_433del
NM_002529.4(NTRK1):c.359+5G>T rs1571685765
NM_002529.4(NTRK1):c.360-2A>C rs797045059
NM_002529.4(NTRK1):c.360-2A>G
NM_002529.4(NTRK1):c.429-1G>A rs748672380
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg) rs1026300967
NM_002529.4(NTRK1):c.572G>T (p.Cys191Phe)
NM_002529.4(NTRK1):c.574+2T>C
NM_002529.4(NTRK1):c.632T>A (p.Val211Glu) rs1064793219
NM_002529.4(NTRK1):c.656delinsTT (p.Gly219fs) rs2102894535
NM_002529.4(NTRK1):c.718-1G>A rs1474214658
NM_002529.4(NTRK1):c.758del (p.Asn253fs)
NM_002529.4(NTRK1):c.851-2A>C rs2102904669

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