ClinVar Miner

List of variants in gene NTRK1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (172):
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Gene type:
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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_002529.4(NTRK1):c.1867G>T (p.Gly623Cys) rs778746462 0.00005
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_002529.4(NTRK1):c.1960C>T (p.Arg654Cys) rs764992664 0.00002
NM_002529.4(NTRK1):c.1162G>A (p.Glu388Lys) rs1008878777 0.00001
NM_002529.4(NTRK1):c.1804C>T (p.Arg602Ter) rs763758904 0.00001
NM_002529.4(NTRK1):c.2303C>T (p.Pro768Leu) rs756981419 0.00001
NM_002529.4(NTRK1):c.574+1G>A rs1232901259 0.00001
NM_002529.4(NTRK1):c.638T>C (p.Leu213Pro) rs747711259 0.00001
NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.4(NTRK1):c.1551_1552insACATCGGG (p.Glu518fs) rs1571699222
NM_002529.4(NTRK1):c.1555G>C (p.Gly519Arg) rs1571699241
NM_002529.4(NTRK1):c.1564G>A (p.Gly522Arg) rs1571699266
NM_002529.4(NTRK1):c.1633-1G>T rs1571699664
NM_002529.4(NTRK1):c.1690C>T (p.Leu564Phe) rs1571699773
NM_002529.4(NTRK1):c.1733T>G (p.Val578Gly) rs1571699872
NM_002529.4(NTRK1):c.1754del (p.Leu585fs) rs1571699945
NM_002529.4(NTRK1):c.1895_1896insA (p.Ser632fs) rs1571702751
NM_002529.4(NTRK1):c.1946G>T (p.Arg649Leu) rs786205449
NM_002529.4(NTRK1):c.2289C>G (p.Cys763Trp) rs1570912410
NM_002529.4(NTRK1):c.2308C>T (p.Gln770Ter) rs764816792
NM_002529.4(NTRK1):c.2328dup (p.Val777fs) rs1570912482
NM_002529.4(NTRK1):c.2344C>T (p.Gln782Ter) rs1570912515
NM_002529.4(NTRK1):c.354_359+3del rs1571685736
NM_002529.4(NTRK1):c.359+5G>T rs1571685765
NM_002529.4(NTRK1):c.429-1G>C rs748672380
NM_002529.4(NTRK1):c.496G>T (p.Gly166Ter) rs1571689630
NM_002529.4(NTRK1):c.543del (p.Leu183fs) rs1485714154
NM_002529.4(NTRK1):c.722dup (p.Gly242fs) rs1571693477
NM_002529.4(NTRK1):c.924_930del (p.Gln308fs) rs1571695851

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