ClinVar Miner

List of variants studied for Hyaline fibromatosis syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_058172.6(ANTXR2):c.*3695T>C rs4611863 0.98122
NM_058172.6(ANTXR2):c.*784T>G rs1139638 0.81044
NM_058172.6(ANTXR2):c.*1521A>G rs7747 0.80751
NM_058172.6(ANTXR2):c.*785T>C rs63539261 0.80416
NM_058172.6(ANTXR2):c.378+8A>C rs4594664 0.62406
NM_058172.6(ANTXR2):c.*4272C>T rs56708107 0.57619
NM_058172.6(ANTXR2):c.-82C>A rs13140055 0.38511
NM_058172.6(ANTXR2):c.*4056T>A rs11946205 0.31619
NM_058172.6(ANTXR2):c.-319C>G rs11557908 0.18441
NM_058172.6(ANTXR2):c.-410G>A rs72869605 0.18258
NM_058172.6(ANTXR2):c.*1671T>G rs2760 0.13117
NM_058172.6(ANTXR2):c.*5602C>G rs4331719 0.12378
NM_058172.6(ANTXR2):c.*28C>T rs61048419 0.08261
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108 0.06853
NM_058172.6(ANTXR2):c.-230_-229del rs80314910 0.06382
NM_058172.6(ANTXR2):c.*1663G>A rs113322831 0.03500
NM_058172.6(ANTXR2):c.*677C>T rs149404014 0.01921
NM_058172.6(ANTXR2):c.-590A>T rs142313419 0.01426
NM_058172.6(ANTXR2):c.225-4G>A rs141355689 0.01378
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646 0.01089
NM_058172.6(ANTXR2):c.796+9C>T rs113482034 0.01026
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133 0.00790
NM_058172.6(ANTXR2):c.*947T>C rs114449405 0.00787
NM_058172.6(ANTXR2):c.*2303A>C rs115504770 0.00686
NM_058172.6(ANTXR2):c.*5547T>C rs114779758 0.00613
NM_058172.6(ANTXR2):c.*2446C>T rs186733755 0.00476
NM_058172.6(ANTXR2):c.*1558C>T rs150281545 0.00454
NM_058172.6(ANTXR2):c.*4630A>T rs190569143 0.00385
NM_058172.6(ANTXR2):c.*1563A>G rs143402499 0.00359
NM_058172.6(ANTXR2):c.*2245G>A rs116794675 0.00344
NM_058172.6(ANTXR2):c.*3902C>T rs191348548 0.00329
NM_058172.6(ANTXR2):c.*5223G>T rs192983822 0.00277
NM_058172.6(ANTXR2):c.*5761A>G rs541962244 0.00249
NM_058172.6(ANTXR2):c.*1126T>A rs192905651 0.00180
NM_058172.6(ANTXR2):c.*2226A>T rs533517816 0.00179
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525 0.00156
NM_058172.6(ANTXR2):c.*242A>G rs139631974 0.00151
NM_058172.6(ANTXR2):c.*702A>C rs537492648 0.00146
NM_058172.6(ANTXR2):c.*3649T>A rs147800526 0.00134
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338 0.00131
NM_058172.6(ANTXR2):c.*4576A>G rs181895498 0.00114
NM_058172.6(ANTXR2):c.*2225A>G rs543254931 0.00070
NM_058172.6(ANTXR2):c.*2550T>C rs559781709 0.00065
NM_058172.6(ANTXR2):c.*5525G>A rs533063623 0.00062
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055 0.00052
NM_058172.6(ANTXR2):c.*4058A>T rs75657044 0.00048
NM_058172.6(ANTXR2):c.*3602A>G rs574894829 0.00046
NM_058172.6(ANTXR2):c.*4223T>C rs181339722 0.00045
NM_058172.6(ANTXR2):c.*703C>T rs745896907 0.00029
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr) rs185151361 0.00027
NM_058172.6(ANTXR2):c.1179+3T>C rs199610196 0.00025
NM_058172.6(ANTXR2):c.945+7A>G rs144618912 0.00024
NM_058172.6(ANTXR2):c.-442C>G rs886059663 0.00019
NM_058172.6(ANTXR2):c.-441C>T rs778888047 0.00018
NM_058172.6(ANTXR2):c.*2899A>G rs529893604 0.00017
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055 0.00017
NM_058172.6(ANTXR2):c.*1114G>A rs753388642 0.00012
NM_058172.6(ANTXR2):c.*1133G>A rs928832669 0.00011
NM_058172.6(ANTXR2):c.*1397G>A rs117533033 0.00010
NM_058172.6(ANTXR2):c.*4264T>A rs1055536755 0.00010
NM_058172.6(ANTXR2):c.*4703T>A rs199645652 0.00010
NM_058172.6(ANTXR2):c.*3468A>G rs561942463 0.00009
NM_058172.6(ANTXR2):c.*3707G>A rs534524069 0.00009
NM_058172.6(ANTXR2):c.-505G>C rs780730755 0.00009
NM_058172.6(ANTXR2):c.*380T>C rs1040964075 0.00008
NM_058172.6(ANTXR2):c.*1099C>T rs939743640 0.00007
NM_058172.6(ANTXR2):c.*2306A>G rs1003608735 0.00007
NM_058172.6(ANTXR2):c.*3843G>A rs540121683 0.00007
NM_058172.6(ANTXR2):c.*559G>A rs755763454 0.00007
NM_058172.6(ANTXR2):c.*4332G>A rs1053639062 0.00006
NM_058172.6(ANTXR2):c.*5524C>T rs927201999 0.00006
NM_058172.6(ANTXR2):c.*2888G>A rs1390353083 0.00005
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp) rs199499401 0.00005
NM_058172.6(ANTXR2):c.*1501G>T rs1470947336 0.00004
NM_058172.6(ANTXR2):c.*3105A>G rs982853737 0.00004
NM_058172.6(ANTXR2):c.*4668T>C rs544590235 0.00004
NM_058172.6(ANTXR2):c.*4847C>T rs763414805 0.00004
NM_058172.6(ANTXR2):c.*1682T>C rs962595800 0.00003
NM_058172.6(ANTXR2):c.*3473A>G rs1427833463 0.00003
NM_058172.6(ANTXR2):c.-634C>T rs897876151 0.00003
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val) rs530888685 0.00003
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226 0.00003
NM_058172.6(ANTXR2):c.*1476G>A rs572394273 0.00002
NM_058172.6(ANTXR2):c.*3533G>A rs746570017 0.00002
NM_058172.6(ANTXR2):c.*5527A>G rs777700684 0.00002
NM_058172.6(ANTXR2):c.-261G>T rs1578203683 0.00002
NM_058172.6(ANTXR2):c.-455C>T rs886059664 0.00002
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657 0.00002
NM_058172.6(ANTXR2):c.*1136C>T rs1026788796 0.00001
NM_058172.6(ANTXR2):c.*130A>G rs1444860170 0.00001
NM_058172.6(ANTXR2):c.*2429G>A rs995476496 0.00001
NM_058172.6(ANTXR2):c.*245A>G rs1486948818 0.00001
NM_058172.6(ANTXR2):c.*263C>T rs1726947408 0.00001
NM_058172.6(ANTXR2):c.*2839G>T rs760081751 0.00001
NM_058172.6(ANTXR2):c.*3544A>G rs1437810034 0.00001
NM_058172.6(ANTXR2):c.*3597T>G rs888487534 0.00001
NM_058172.6(ANTXR2):c.*4194C>T rs1005734569 0.00001
NM_058172.6(ANTXR2):c.*4201A>G rs952978226 0.00001
NM_058172.6(ANTXR2):c.*4462A>G rs974485555 0.00001
NM_058172.6(ANTXR2):c.*4504C>T rs1726763836 0.00001
NM_058172.6(ANTXR2):c.*4917G>A rs1340353111 0.00001
NM_058172.6(ANTXR2):c.*5425G>A rs568935269 0.00001
NM_058172.6(ANTXR2):c.*752C>G rs1302997320 0.00001
NM_058172.6(ANTXR2):c.-5G>A rs765908500 0.00001
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr) rs1445493382 0.00001
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp) rs369528902 0.00001
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771 0.00001
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658 0.00001
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841 0.00001
NM_058172.5(ANTXR2):c.-714A>T rs886059665
NM_058172.6(ANTXR2):c.*1085T>C rs1726908171
NM_058172.6(ANTXR2):c.*1113C>T rs554716997
NM_058172.6(ANTXR2):c.*1295T>C rs956054737
NM_058172.6(ANTXR2):c.*1795G>A rs1726872226
NM_058172.6(ANTXR2):c.*2187A>C rs1044519123
NM_058172.6(ANTXR2):c.*2256T>C rs1726855465
NM_058172.6(ANTXR2):c.*2666A>C rs1726839418
NM_058172.6(ANTXR2):c.*2959C>G rs1726830497
NM_058172.6(ANTXR2):c.*3212T>C rs1726821073
NM_058172.6(ANTXR2):c.*336C>T rs4690108
NM_058172.6(ANTXR2):c.*3371C>A rs768265599
NM_058172.6(ANTXR2):c.*3606A>G rs1726804365
NM_058172.6(ANTXR2):c.*3888T>G rs183636388
NM_058172.6(ANTXR2):c.*3953G>A rs369116782
NM_058172.6(ANTXR2):c.*4712C>T rs1726753644
NM_058172.6(ANTXR2):c.*4856C>T rs149098653
NM_058172.6(ANTXR2):c.*5266A>C rs1726732435
NM_058172.6(ANTXR2):c.*5310T>G rs1726729431
NM_058172.6(ANTXR2):c.*5358A>G rs1726727827
NM_058172.6(ANTXR2):c.*5413A>G rs1726724637
NM_058172.6(ANTXR2):c.*728G>A rs778332341
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C rs1264418120
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A rs1010470801
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.1068C>A (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1068C>G (p.Pro356=) rs72653288
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly) rs534683576
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala) rs995416393
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058172.6(ANTXR2):c.637-10dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile) rs768405615
NM_058172.6(ANTXR2):c.796+3A>C rs1732794597

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.