ClinVar Miner

Variants with conflicting interpretations studied for Hereditary insensitivity to pain with anhidrosis

Coded as:
Minimum review status of the submission for Hereditary insensitivity to pain with anhidrosis: Collection method of the submission for Hereditary insensitivity to pain with anhidrosis:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
910 205 0 28 77 0 6 109

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Hereditary insensitivity to pain with anhidrosis pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 12 1 0 0
likely pathogenic 12 0 4 1 0
uncertain significance 1 4 0 72 7
likely benign 0 1 72 0 16
benign 0 0 7 16 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Hereditary insensitivity to pain with anhidrosis 910 205 0 28 77 0 6 109

All variants with conflicting interpretations #

Total variants: 109
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.2047-11G>A rs79173278 0.01269
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
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.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
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.254G>A (p.Arg85His) rs79678945 0.00220
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.1354+18A>T rs73004759 0.00164
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.602C>A (p.Pro201His) rs146201511 0.00061
NM_002529.4(NTRK1):c.1320C>G (p.Asn440Lys) rs147443162 0.00050
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.482G>A (p.Arg161His) rs150271893 0.00031
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.504C>T (p.Gly168=) rs144594313 0.00018
NM_002529.4(NTRK1):c.631G>A (p.Val211Met) rs201192875 0.00017
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met) rs552776147 0.00014
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln) rs764417252 0.00013
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg) rs138608619 0.00013
NM_002529.4(NTRK1):c.1257G>A (p.Ser419=) rs750968694 0.00012
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.659G>A (p.Arg220Gln) rs540751200 0.00009
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala) rs201503610 0.00008
NM_002529.4(NTRK1):c.824A>C (p.Glu275Ala) rs138533001 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.2113A>T (p.Thr705Ser) rs200935209 0.00006
NM_002529.4(NTRK1):c.2231G>A (p.Arg744His) rs751281792 0.00006
NM_002529.4(NTRK1):c.470G>A (p.Arg157His) rs141021604 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.1939G>T (p.Val647Leu) rs142870382 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.575-19G>A rs370828525 0.00005
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_002529.4(NTRK1):c.1252-6C>G rs776728101 0.00004
NM_002529.4(NTRK1):c.1796G>A (p.Arg599His) rs775718859 0.00004
NM_002529.4(NTRK1):c.288-5C>T rs200860423 0.00004
NM_002529.4(NTRK1):c.818G>A (p.Arg273Gln) rs200305545 0.00004
NM_002529.4(NTRK1):c.1354+1G>T rs764771898 0.00003
NM_002529.4(NTRK1):c.1473C>T (p.Ile491=) rs373181158 0.00003
NM_002529.4(NTRK1):c.1778G>A (p.Arg593Gln) rs748133401 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_002529.4(NTRK1):c.2338C>T (p.Arg780Trp) rs537948663 0.00003
NM_002529.4(NTRK1):c.2355C>T (p.Ala785=) rs772156529 0.00003
NM_002529.4(NTRK1):c.676G>A (p.Gly226Ser) rs760918699 0.00003
NM_002529.4(NTRK1):c.808G>A (p.Asp270Asn) rs145222195 0.00003
NM_002529.4(NTRK1):c.954T>C (p.Asn318=) rs769539870 0.00003
NM_002529.4(NTRK1):c.1237G>C (p.Glu413Gln) rs199826686 0.00002
NM_002529.4(NTRK1):c.1805+8C>A rs780424308 0.00002
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.2205+10G>A rs368713268 0.00002
NM_002529.4(NTRK1):c.65T>A (p.Leu22Gln) rs748402400 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.12C>T (p.Gly4=) rs757229319 0.00001
NM_002529.4(NTRK1):c.1359G>A (p.Pro453=) rs200937156 0.00001
NM_002529.4(NTRK1):c.1597C>T (p.Leu533=) rs760564817 0.00001
NM_002529.4(NTRK1):c.1646C>T (p.Ala549Val) rs763247367 0.00001
NM_002529.4(NTRK1):c.1647G>A (p.Ala549=) rs771010259 0.00001
NM_002529.4(NTRK1):c.1650C>T (p.Ser550=) rs774664479 0.00001
NM_002529.4(NTRK1):c.1734C>G (p.Val578=) rs953974597 0.00001
NM_002529.4(NTRK1):c.2047-6T>C rs762866535 0.00001
NM_002529.4(NTRK1):c.2124C>T (p.Ser708=) rs1371693296 0.00001
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) rs759190964 0.00001
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.2312G>A (p.Arg771His) rs780724170 0.00001
NM_002529.4(NTRK1):c.326A>G (p.Asp109Gly) rs141592864 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.1196-9T>C rs760602338
NM_002529.4(NTRK1):c.1501+1G>A rs1647858636
NM_002529.4(NTRK1):c.1521C>T (p.Arg507=) rs901135479
NM_002529.4(NTRK1):c.1569G>A (p.Lys523=) rs1647889781
NM_002529.4(NTRK1):c.1754del (p.Leu585fs) rs1571699945
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) rs786205449
NM_002529.4(NTRK1):c.1995G>A (p.Lys665=) rs553270591
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.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.2231del (p.Arg744fs)
NM_002529.4(NTRK1):c.2301G>A (p.Glu767=) rs753397054
NM_002529.4(NTRK1):c.360-2A>C rs797045059
NM_002529.4(NTRK1):c.435G>C (p.Leu145=) rs1647275742
NM_002529.4(NTRK1):c.468G>C (p.Leu156=) rs991397214

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