ClinVar Miner

List of variants studied for Hereditary insensitivity to pain with anhidrosis by Illumina Laboratory Services, Illumina

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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_002529.4(NTRK1):c.1674G>A (p.Gln558=) rs6334 0.19892
NM_002529.4(NTRK1):c.1806-4del rs1799770 0.06316
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_002529.4(NTRK1):c.1860C>T (p.Gly620=) rs6338 0.03397
NM_002529.4(NTRK1):c.2052A>G (p.Gly684=) rs34271945 0.03311
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_002529.4(NTRK1):c.1331G>A (p.Arg444Gln) rs56320207 0.01010
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_002529.4(NTRK1):c.288-8C>T rs80026148 0.00947
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_002529.4(NTRK1):c.1728C>T (p.Phe576=) rs6335 0.00563
NM_002529.4(NTRK1):c.2202G>A (p.Thr734=) rs55668752 0.00562
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_002529.4(NTRK1):c.428+12C>A rs41267425 0.00357
NM_002529.4(NTRK1):c.1236C>T (p.Asp412=) rs147438950 0.00289
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_002529.4(NTRK1):c.1908G>A (p.Ala636=) rs17838192 0.00198
NM_002529.4(NTRK1):c.157G>C (p.Asp53His) rs200815412 0.00187
NM_002529.4(NTRK1):c.287+12G>A rs202238126 0.00138
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys) rs137979116 0.00118
NM_002529.4(NTRK1):c.212+10C>T rs183517027 0.00108
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_002529.4(NTRK1):c.*56C>G rs773036874 0.00061
NM_002529.4(NTRK1):c.1252-15C>G rs186649954 0.00049
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_002529.4(NTRK1):c.*6C>T rs370807813 0.00037
NM_002529.4(NTRK1):c.482G>A (p.Arg161His) rs150271893 0.00031
NM_002529.4(NTRK1):c.505G>A (p.Gly169Arg) rs367836863 0.00030
NM_002529.4(NTRK1):c.1068C>T (p.Asn356=) rs145823996 0.00029
NM_002529.4(NTRK1):c.575G>C (p.Gly192Ala) rs201185829 0.00027
NM_002529.4(NTRK1):c.641G>A (p.Arg214Gln) rs200132482 0.00023
NM_002529.4(NTRK1):c.630C>T (p.Asp210=) rs147882947 0.00021
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 0.00017
NM_002529.4(NTRK1):c.*39C>T rs774009893 0.00016
NM_002529.4(NTRK1):c.640C>T (p.Arg214Trp) rs372041586 0.00016
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys) rs188270548 0.00011
NM_002529.4(NTRK1):c.279G>A (p.Leu93=) rs147983523 0.00011
NM_002529.4(NTRK1):c.711G>A (p.Thr237=) rs537430475 0.00010
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) rs754452975 0.00008
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002529.4(NTRK1):c.585G>A (p.Thr195=) rs182531655 0.00007
NM_002529.4(NTRK1):c.658C>T (p.Arg220Trp) rs202030811 0.00007
NM_002529.4(NTRK1):c.1522C>A (p.Arg508=) rs200575096 0.00006
NM_002529.4(NTRK1):c.575-15G>A rs762788551 0.00006
NM_002529.4(NTRK1):c.850+11G>A rs372293237 0.00006
NM_002529.4(NTRK1):c.*96G>A rs886045374 0.00005
NM_002529.4(NTRK1):c.357C>T (p.Arg119=) rs149960336 0.00005
NM_002529.4(NTRK1):c.375C>T (p.Asn125=) rs757803799 0.00005
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002529.4(NTRK1):c.2371T>C (p.Tyr791His) rs750111437 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 0.00004
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) rs772156529 0.00003
NM_002529.4(NTRK1):c.628G>A (p.Asp210Asn) rs745366033 0.00003
NM_002529.4(NTRK1):c.1917G>A (p.Val639=) rs760171782 0.00002
NM_002529.4(NTRK1):c.2047-8C>T rs769308621 0.00002
NM_002529.4(NTRK1):c.2169C>T (p.Tyr723=) rs140852621 0.00002
NM_002529.4(NTRK1):c.1005G>A (p.Pro335=) rs780334454 0.00001
NM_002529.4(NTRK1):c.1196-11T>C rs1024148691 0.00001
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val) rs763247367 0.00001
NM_002529.4(NTRK1):c.1717G>A (p.Val573Met) rs755016431 0.00001
NM_002529.4(NTRK1):c.2248C>T (p.Arg750Cys) rs1009726086 0.00001
NM_002529.4(NTRK1):c.265G>A (p.Gly89Ser) rs2274496 0.00001
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly) rs141592864 0.00001
NM_002529.4(NTRK1):c.1448G>A (p.Gly483Asp) rs1647855568
NM_002529.4(NTRK1):c.1632+4A>G rs886045372
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) rs553270591
NM_002529.4(NTRK1):c.2015G>A (p.Ser672Asn) rs1558108205
NM_002529.4(NTRK1):c.2035G>C (p.Asp679His) rs775191394
NM_002529.4(NTRK1):c.213-5C>G rs757323460
NM_002529.4(NTRK1):c.2205+13C>A rs1648175536
NM_002529.4(NTRK1):c.2214C>T (p.Asp738=) rs1648253157
NM_002529.4(NTRK1):c.2299G>C (p.Glu767Gln) rs886045373
NM_002529.4(NTRK1):c.468G>C (p.Leu156=) rs991397214

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