ClinVar Miner

Variants in gene NTRK1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 14
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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.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.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_002529.4(NTRK1):c.1805G>A (p.Arg602Gln) rs1647932465
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.2046dup (p.Val683fs) rs2102925337
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.4(NTRK1):c.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.359+5G>T rs1571685765
NM_002529.4(NTRK1):c.360-2A>C rs797045059

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