ClinVar Miner

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

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Total variants: 30
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HGVS dbSNP
NM_001007792.1(NTRK1):c.1072G>A (p.Glu358Lys) rs1008878777
NM_001007792.1(NTRK1):c.1366G>A (p.Glu456Lys) rs144901788
NM_001007792.1(NTRK1):c.1443_1444insACATCGGG (p.Glu482fs) rs1571699222
NM_001007792.1(NTRK1):c.1447G>C (p.Gly483Arg) rs1571699241
NM_001007792.1(NTRK1):c.1456G>A (p.Gly486Arg) rs1571699266
NM_001007792.1(NTRK1):c.1525-1G>T rs1571699664
NM_001007792.1(NTRK1):c.1582C>T (p.Leu528Phe) rs1571699773
NM_001007792.1(NTRK1):c.1625T>G (p.Val542Gly) rs1571699872
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028
NM_001007792.1(NTRK1):c.1646del (p.Leu549fs) rs1571699945
NM_001007792.1(NTRK1):c.1696C>T (p.Arg566Ter) rs763758904
NM_001007792.1(NTRK1):c.1759G>T (p.Gly587Cys) rs778746462
NM_001007792.1(NTRK1):c.1787_1788insA (p.Ser596fs) rs1571702751
NM_001007792.1(NTRK1):c.1838G>T (p.Arg613Leu) rs786205449
NM_001007792.1(NTRK1):c.1852C>T (p.Arg618Cys) rs764992664
NM_001007792.1(NTRK1):c.2181C>G (p.Cys727Trp) rs1570912410
NM_001007792.1(NTRK1):c.2195C>T (p.Pro732Leu) rs756981419
NM_001007792.1(NTRK1):c.2200C>T (p.Gln734Ter) rs764816792
NM_001007792.1(NTRK1):c.2220dup (p.Val741fs) rs1570912482
NM_001007792.1(NTRK1):c.2236C>T (p.Gln746Ter) rs1570912515
NM_001007792.1(NTRK1):c.264_269+3del rs1571685736
NM_001007792.1(NTRK1):c.269+5G>T rs1571685765
NM_001007792.1(NTRK1):c.339-1G>C rs748672380
NM_001007792.1(NTRK1):c.406G>T (p.Gly136Ter) rs1571689630
NM_001007792.1(NTRK1):c.453del (p.Leu153fs) rs1485714154
NM_001007792.1(NTRK1):c.484+1G>A rs1232901259
NM_001007792.1(NTRK1):c.548T>C (p.Leu183Pro) rs747711259
NM_001007792.1(NTRK1):c.632dup (p.Gly212fs) rs1571693477
NM_001007792.1(NTRK1):c.834_840del (p.Gln278fs) rs1571695851
NM_001007792.1(NTRK1):c.986A>G (p.Tyr329Cys) rs121964869

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