ClinVar Miner

List of variants in gene NTRK1 reported as uncertain significance for Charcot-Marie-Tooth disease

Included ClinVar conditions (135):
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Total variants: 29
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HGVS dbSNP
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs)
NM_002529.3(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.3(NTRK1):c.1162G>A (p.Glu388Lys)
NM_002529.3(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788
NM_002529.3(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs)
NM_002529.3(NTRK1):c.1555G>C (p.Gly519Arg)
NM_002529.3(NTRK1):c.1564G>A (p.Gly522Arg)
NM_002529.3(NTRK1):c.1633-1G>T
NM_002529.3(NTRK1):c.1690C>T (p.Leu564Phe)
NM_002529.3(NTRK1):c.1733T>G (p.Val578Gly)
NM_002529.3(NTRK1):c.1754del (p.Leu585fs)
NM_002529.3(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904
NM_002529.3(NTRK1):c.1867G>T (p.Gly623Cys)
NM_002529.3(NTRK1):c.1895_1896insA (p.Ser632fs)
NM_002529.3(NTRK1):c.1946G>T (p.Arg649Leu)
NM_002529.3(NTRK1):c.1960C>T (p.Arg654Cys)
NM_002529.3(NTRK1):c.2289C>G (p.Cys763Trp)
NM_002529.3(NTRK1):c.2303C>T (p.Pro768Leu)
NM_002529.3(NTRK1):c.2308C>T (p.Gln770Ter)
NM_002529.3(NTRK1):c.2344C>T (p.Gln782Ter)
NM_002529.3(NTRK1):c.253C>A (p.Arg85Ser) rs543320028
NM_002529.3(NTRK1):c.354_359+3del
NM_002529.3(NTRK1):c.359+5G>T
NM_002529.3(NTRK1):c.429-1G>C
NM_002529.3(NTRK1):c.496G>T (p.Gly166Ter)
NM_002529.3(NTRK1):c.543del (p.Leu183fs)
NM_002529.3(NTRK1):c.638T>C (p.Leu213Pro) rs747711259
NM_002529.3(NTRK1):c.722dup (p.Gly242fs)
NM_002529.3(NTRK1):c.924_930del (p.Gln308fs)

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