ClinVar Miner

List of variants in gene NTRK1 reported as pathogenic by OMIM

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Total variants: 16
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HGVS dbSNP
NM_001007792.1(NTRK1):c.123-3213_123-3212del rs398122810
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.1702C>T (p.His568Tyr) rs6336
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001007792.1(NTRK1):c.1938+3A>C rs914061514
NM_001007792.1(NTRK1):c.1976C>T (p.Pro659Leu) rs121964868
NM_001007792.1(NTRK1):c.2231G>C (p.Arg744Pro) rs35669708
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) rs121964869
NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]
NM_002529.3(NTRK1):c.1550G>A (p.Gly517Glu) rs606231467
NM_002529.3(NTRK1):c.717+4A>T rs606231466
NTRK1, 1-BP INS, 1926T
NTRK1, IVS4, G-C, -1 AND ARG85SER
NTRK1, IVS7AS, T-A, -33

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