ClinVar Miner

List of variants studied for Hyaline fibromatosis syndrome

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Total variants: 171
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HGVS dbSNP
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
NM_058172.6(ANTXR2):c.*1085T>C rs1726908171
NM_058172.6(ANTXR2):c.*1099C>T rs939743640
NM_058172.6(ANTXR2):c.*1113C>T rs554716997
NM_058172.6(ANTXR2):c.*1114G>A rs753388642
NM_058172.6(ANTXR2):c.*1126T>A rs192905651
NM_058172.6(ANTXR2):c.*1133G>A rs928832669
NM_058172.6(ANTXR2):c.*1136C>T rs1026788796
NM_058172.6(ANTXR2):c.*1295T>C rs956054737
NM_058172.6(ANTXR2):c.*130A>G rs1444860170
NM_058172.6(ANTXR2):c.*1397G>A rs117533033
NM_058172.6(ANTXR2):c.*1476G>A rs572394273
NM_058172.6(ANTXR2):c.*1501G>T rs1470947336
NM_058172.6(ANTXR2):c.*1521A>G rs7747
NM_058172.6(ANTXR2):c.*1558C>T rs150281545
NM_058172.6(ANTXR2):c.*1563A>G rs143402499
NM_058172.6(ANTXR2):c.*1663G>A rs113322831
NM_058172.6(ANTXR2):c.*1671T>G rs2760
NM_058172.6(ANTXR2):c.*1682T>C rs962595800
NM_058172.6(ANTXR2):c.*1795G>A rs1726872226
NM_058172.6(ANTXR2):c.*2187A>C rs1044519123
NM_058172.6(ANTXR2):c.*2225A>G rs543254931
NM_058172.6(ANTXR2):c.*2226A>T rs533517816
NM_058172.6(ANTXR2):c.*2245G>A rs116794675
NM_058172.6(ANTXR2):c.*2256T>C rs1726855465
NM_058172.6(ANTXR2):c.*2303A>C rs115504770
NM_058172.6(ANTXR2):c.*2306A>G rs1003608735
NM_058172.6(ANTXR2):c.*2429G>A rs995476496
NM_058172.6(ANTXR2):c.*242A>G rs139631974
NM_058172.6(ANTXR2):c.*2446C>T rs186733755
NM_058172.6(ANTXR2):c.*245A>G rs1486948818
NM_058172.6(ANTXR2):c.*2550T>C rs559781709
NM_058172.6(ANTXR2):c.*263C>T rs1726947408
NM_058172.6(ANTXR2):c.*2666A>C rs1726839418
NM_058172.6(ANTXR2):c.*2839G>T rs760081751
NM_058172.6(ANTXR2):c.*2888G>A rs1390353083
NM_058172.6(ANTXR2):c.*2899A>G rs529893604
NM_058172.6(ANTXR2):c.*28C>T rs61048419
NM_058172.6(ANTXR2):c.*2959C>G rs1726830497
NM_058172.6(ANTXR2):c.*3105A>G rs982853737
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.*3468A>G rs561942463
NM_058172.6(ANTXR2):c.*3473A>G rs1427833463
NM_058172.6(ANTXR2):c.*3533G>A rs746570017
NM_058172.6(ANTXR2):c.*3544A>G rs1437810034
NM_058172.6(ANTXR2):c.*3597T>G rs888487534
NM_058172.6(ANTXR2):c.*3602A>G rs574894829
NM_058172.6(ANTXR2):c.*3606A>G rs1726804365
NM_058172.6(ANTXR2):c.*3649T>A rs147800526
NM_058172.6(ANTXR2):c.*3695T>C rs4611863
NM_058172.6(ANTXR2):c.*3707G>A rs534524069
NM_058172.6(ANTXR2):c.*380T>C rs1040964075
NM_058172.6(ANTXR2):c.*3843G>A rs540121683
NM_058172.6(ANTXR2):c.*3888T>G rs183636388
NM_058172.6(ANTXR2):c.*3902C>T rs191348548
NM_058172.6(ANTXR2):c.*3953G>A rs369116782
NM_058172.6(ANTXR2):c.*4056T>A rs11946205
NM_058172.6(ANTXR2):c.*4058A>T rs75657044
NM_058172.6(ANTXR2):c.*4194C>T rs1005734569
NM_058172.6(ANTXR2):c.*4201A>G rs952978226
NM_058172.6(ANTXR2):c.*4223T>C rs181339722
NM_058172.6(ANTXR2):c.*4264T>A rs1055536755
NM_058172.6(ANTXR2):c.*4272C>T rs56708107
NM_058172.6(ANTXR2):c.*4332G>A rs1053639062
NM_058172.6(ANTXR2):c.*4462A>G rs974485555
NM_058172.6(ANTXR2):c.*4504C>T rs1726763836
NM_058172.6(ANTXR2):c.*4576A>G rs181895498
NM_058172.6(ANTXR2):c.*4630A>T rs190569143
NM_058172.6(ANTXR2):c.*4668T>C rs544590235
NM_058172.6(ANTXR2):c.*4703T>A rs199645652
NM_058172.6(ANTXR2):c.*4712C>T rs1726753644
NM_058172.6(ANTXR2):c.*4847C>T rs763414805
NM_058172.6(ANTXR2):c.*4856C>T rs149098653
NM_058172.6(ANTXR2):c.*4917G>A rs1340353111
NM_058172.6(ANTXR2):c.*5223G>T rs192983822
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.*5425G>A rs568935269
NM_058172.6(ANTXR2):c.*5524C>T rs927201999
NM_058172.6(ANTXR2):c.*5525G>A rs533063623
NM_058172.6(ANTXR2):c.*5527A>G rs777700684
NM_058172.6(ANTXR2):c.*5547T>C rs114779758
NM_058172.6(ANTXR2):c.*559G>A rs755763454
NM_058172.6(ANTXR2):c.*5602C>G rs4331719
NM_058172.6(ANTXR2):c.*5761A>G rs541962244
NM_058172.6(ANTXR2):c.*677C>T rs149404014
NM_058172.6(ANTXR2):c.*702A>C rs537492648
NM_058172.6(ANTXR2):c.*703C>T rs745896907
NM_058172.6(ANTXR2):c.*728G>A rs778332341
NM_058172.6(ANTXR2):c.*752C>G rs1302997320
NM_058172.6(ANTXR2):c.*784T>G rs1139638
NM_058172.6(ANTXR2):c.*785T>C rs63539261
NM_058172.6(ANTXR2):c.*947T>C rs114449405
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C rs1264418120
NM_058172.6(ANTXR2):c.-230_-229del rs80314910
NM_058172.6(ANTXR2):c.-261G>T rs1578203683
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A rs1010470801
NM_058172.6(ANTXR2):c.-319C>G rs11557908
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410G>A rs72869605
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-441C>T rs778888047
NM_058172.6(ANTXR2):c.-442C>G rs886059663
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-505G>C rs780730755
NM_058172.6(ANTXR2):c.-590A>T rs142313419
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T rs897876151
NM_058172.6(ANTXR2):c.-82C>A rs13140055
NM_058172.6(ANTXR2):c.1042-114G>A
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.1069del (p.Ala357fs) rs556120147
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly) rs534683576
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1074del (p.Ala359fs) rs312262693
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1148G>A (p.Gly383Asp) rs886039907
NM_058172.6(ANTXR2):c.1179+3T>C rs199610196
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.1190dup (p.Gly397_Asp398insTer) rs1578125066
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala) rs995416393
NM_058172.6(ANTXR2):c.1305del (p.Thr436fs) rs797045028
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr) rs1445493382
NM_058172.6(ANTXR2):c.1312C>T (p.Gln438Ter)
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp) rs369528902
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058172.6(ANTXR2):c.1360G>A (p.Ala454Thr) rs185151361
NM_058172.6(ANTXR2):c.1361C>T (p.Ala454Val) rs372562244
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1395G>A (p.Arg465=) rs35798108
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp) rs199499401
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.225-4G>A rs141355689
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658
NM_058172.6(ANTXR2):c.241T>C (p.Ser81Pro) rs797045029
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657
NM_058172.6(ANTXR2):c.297-2del
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.324T>C (p.Asp108=) rs184413338
NM_058172.6(ANTXR2):c.331C>T (p.Arg111Cys) rs61741646
NM_058172.6(ANTXR2):c.378+8A>C rs4594664
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val) rs530888685
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.636+54T>A
NM_058172.6(ANTXR2):c.637-10del rs373672335
NM_058172.6(ANTXR2):c.637-10dup rs373672335
NM_058172.6(ANTXR2):c.652T>C (p.Cys218Arg) rs781637328
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile) rs768405615
NM_058172.6(ANTXR2):c.720del (p.Ser240fs) rs1732803804
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226
NM_058172.6(ANTXR2):c.770dup (p.Tyr257Ter) rs1578172709
NM_058172.6(ANTXR2):c.796+3A>C rs1732794597
NM_058172.6(ANTXR2):c.796+9C>T rs113482034
NM_058172.6(ANTXR2):c.808G>A (p.Val270Ile) rs113707133
NM_058172.6(ANTXR2):c.867_945del (p.Glu289fs) rs1560998734
NM_058172.6(ANTXR2):c.903dup (p.Ser302fs) rs1553933367
NM_058172.6(ANTXR2):c.916G>C (p.Gly306Arg) rs202143525
NM_058172.6(ANTXR2):c.945+7A>G rs144618912
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841
NM_058172.6:c.1074del

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