ClinVar Miner

List of variants reported as uncertain significance for familial tumoral calcinosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 293
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HGVS dbSNP gnomAD frequency
NM_020638.3(FGF23):c.*1772G>A rs13312800 0.00298
NM_004795.4(KL):c.*1324A>G rs185425841 0.00220
NM_004795.4(KL):c.2626G>A (p.Asp876Asn) rs146235320 0.00193
NM_004482.4(GALNT3):c.*870A>T rs189290881 0.00180
NM_020638.3(FGF23):c.*1886C>A rs183802802 0.00169
NM_004795.4(KL):c.*1372T>A rs189084711 0.00144
NM_004482.4(GALNT3):c.-252C>T rs540533361 0.00115
NM_004795.4(KL):c.*380A>G rs191750865 0.00112
NM_004795.4(KL):c.15C>T (p.Ala5=) rs934153273 0.00098
NM_004482.4(GALNT3):c.507A>G (p.Arg169=) rs150682922 0.00092
NM_004482.4(GALNT3):c.-246A>C rs759149342 0.00091
NM_020638.3(FGF23):c.*1575T>C rs562433374 0.00088
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_004795.4(KL):c.1188A>G (p.Gln396=) rs139912465 0.00053
NM_004795.4(KL):c.1419G>A (p.Arg473=) rs144181834 0.00052
NM_004795.4(KL):c.*1894T>G rs763468774 0.00048
NM_004795.4(KL):c.2571C>A (p.Asn857Lys) rs140707985 0.00048
NM_004795.4(KL):c.*793G>T rs568826729 0.00042
NM_004795.4(KL):c.1945C>T (p.Arg649Cys) rs199843173 0.00037
NM_004482.4(GALNT3):c.293T>G (p.Leu98Trp) rs143136193 0.00036
NM_004795.4(KL):c.*934T>A rs151258919 0.00036
NM_004482.4(GALNT3):c.493G>A (p.Gly165Arg) rs147779149 0.00024
NM_004795.4(KL):c.2298C>G (p.Gly766=) rs141751859 0.00024
NM_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_004795.4(KL):c.967G>A (p.Val323Ile) rs143344388 0.00019
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val) rs376829052 0.00018
NM_004482.4(GALNT3):c.599C>T (p.Thr200Met) rs138645426 0.00016
NM_004795.4(KL):c.*466A>T rs770665581 0.00016
NM_004795.4(KL):c.1764G>T (p.Met588Ile) rs543489938 0.00014
NM_020638.3(FGF23):c.*1492T>C rs986708682 0.00014
NM_004482.4(GALNT3):c.-238C>T rs886055016 0.00013
NM_004482.4(GALNT3):c.718G>C (p.Val240Leu) rs146978168 0.00013
NM_004795.4(KL):c.*1565T>C rs886050127 0.00013
NM_004795.4(KL):c.1105C>G (p.Leu369Val) rs142695155 0.00012
NM_004795.4(KL):c.1882C>T (p.Arg628Cys) rs200940225 0.00012
NM_004795.4(KL):c.911A>G (p.Asn304Ser) rs745640577 0.00012
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_004482.4(GALNT3):c.538C>T (p.Arg180Cys) rs377392356 0.00011
NM_004795.4(KL):c.1858C>T (p.Arg620Cys) rs34292549 0.00011
NM_004795.4(KL):c.450C>A (p.Ser150=) rs764992732 0.00011
NM_004795.4(KL):c.476A>G (p.Asn159Ser) rs200218010 0.00011
NM_004795.4(KL):c.511C>A (p.Arg171Ser) rs200517420 0.00011
NM_004795.4(KL):c.*771C>T rs886050123 0.00009
NM_004795.4(KL):c.2862G>A (p.Pro954=) rs387907447 0.00009
NM_004795.4(KL):c.956C>T (p.Ser319Phe) rs138955761 0.00009
NM_004795.4(KL):c.2259G>A (p.Leu753=) rs200040161 0.00008
NM_004482.4(GALNT3):c.1534G>A (p.Val512Ile) rs374713815 0.00007
NM_004795.4(KL):c.*735G>A rs527723516 0.00007
NM_004795.4(KL):c.2069C>T (p.Pro690Leu) rs146275953 0.00007
NM_004795.4(KL):c.2251A>G (p.Arg751Gly) rs373177691 0.00007
NM_004795.4(KL):c.747C>T (p.Ala249=) rs563017227 0.00007
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_004482.4(GALNT3):c.*143G>A rs771919992 0.00006
NM_004482.4(GALNT3):c.147A>C (p.Glu49Asp) rs756068998 0.00006
NM_004482.4(GALNT3):c.338G>A (p.Arg113His) rs200762567 0.00006
NM_004795.4(KL):c.*853T>C rs1426785432 0.00006
NM_004795.4(KL):c.*8C>T rs773877611 0.00006
NM_004795.4(KL):c.2557C>T (p.Arg853Cys) rs147992424 0.00006
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_004795.4(KL):c.2904C>T (p.Thr968=) rs762438505 0.00005
NM_017654.4(SAMD9):c.83T>C (p.Ile28Thr) rs776674692 0.00005
NM_020638.3(FGF23):c.*181T>C rs886049409 0.00005
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 0.00005
NM_004482.4(GALNT3):c.1253G>A (p.Arg418His) rs143396063 0.00004
NM_004482.4(GALNT3):c.1348A>G (p.Ile450Val) rs146096050 0.00004
NM_004482.4(GALNT3):c.1435C>T (p.Arg479Cys) rs753199090 0.00004
NM_004482.4(GALNT3):c.600G>A (p.Thr200=) rs749981979 0.00004
NM_004795.4(KL):c.1860C>A (p.Arg620=) rs995644762 0.00004
NM_004795.4(KL):c.2057C>T (p.Thr686Met) rs141695559 0.00004
NM_004795.4(KL):c.2513G>C (p.Trp838Ser) rs199812311 0.00004
NM_004795.4(KL):c.398T>A (p.Phe133Tyr) rs749356037 0.00004
NM_004795.4(KL):c.560C>T (p.Pro187Leu) rs761695698 0.00004
NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter) rs200178876 0.00004
NM_020638.3(FGF23):c.*1049C>T rs13312797 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_004482.4(GALNT3):c.*27G>T rs775247455 0.00003
NM_004482.4(GALNT3):c.*318T>G rs886055013 0.00003
NM_004482.4(GALNT3):c.1369G>A (p.Asp457Asn) rs377389049 0.00003
NM_004482.4(GALNT3):c.851A>G (p.Tyr284Cys) rs539221514 0.00003
NM_004795.4(KL):c.2995C>A (p.Leu999Ile) rs200295310 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_020638.3(FGF23):c.*1292C>T rs897877189 0.00003
NM_020638.3(FGF23):c.*1352T>C rs886049398 0.00003
NM_020638.3(FGF23):c.*182G>A rs563817819 0.00003
NM_020638.3(FGF23):c.*856C>G rs886049399 0.00003
NM_020638.3(FGF23):c.-23C>T rs769953313 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_020638.3(FGF23):c.73T>C (p.Tyr25His) rs769336439 0.00003
NM_004482.3(GALNT3):c.-358C>T rs886055018 0.00002
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln) rs766717305 0.00002
NM_004482.4(GALNT3):c.782G>A (p.Arg261Gln) rs111875321 0.00002
NM_004795.4(KL):c.1780C>T (p.Arg594Cys) rs138511256 0.00002
NM_004795.4(KL):c.2572T>A (p.Trp858Arg) rs757603569 0.00002
NM_004795.4(KL):c.442C>T (p.Arg148Cys) rs868310562 0.00002
NM_004795.4(KL):c.497A>G (p.Asn166Ser) rs387907444 0.00002
NM_004795.4(KL):c.944A>G (p.Glu315Gly) rs759972130 0.00002
NM_020638.3(FGF23):c.*944G>A rs561820380 0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_004482.4(GALNT3):c.*28G>T rs1688303362 0.00001
NM_004482.4(GALNT3):c.*319A>C rs886055012 0.00001
NM_004482.4(GALNT3):c.-227C>T rs886055015 0.00001
NM_004482.4(GALNT3):c.-309G>A rs886055017 0.00001
NM_004482.4(GALNT3):c.-73C>T rs971726102 0.00001
NM_004482.4(GALNT3):c.1524+3G>A rs1204200153 0.00001
NM_004482.4(GALNT3):c.1565A>G (p.Glu522Gly) rs780631238 0.00001
NM_004482.4(GALNT3):c.1627-3T>C rs373125597 0.00001
NM_004482.4(GALNT3):c.166A>T (p.Met56Leu) rs779573886 0.00001
NM_004482.4(GALNT3):c.337C>T (p.Arg113Cys) rs371697905 0.00001
NM_004482.4(GALNT3):c.838+10T>C rs201497875 0.00001
NM_004482.4(GALNT3):c.918T>C (p.Ile306=) rs753659298 0.00001
NM_004795.4(KL):c.*1486T>C rs1872386469 0.00001
NM_004795.4(KL):c.*1728A>G rs556620337 0.00001
NM_004795.4(KL):c.*174A>G rs886050121 0.00001
NM_004795.4(KL):c.*1750T>C rs886050129 0.00001
NM_004795.4(KL):c.*17A>G rs1308258377 0.00001
NM_004795.4(KL):c.*587G>C rs532213166 0.00001
NM_004795.4(KL):c.1331-3C>A rs748430461 0.00001
NM_004795.4(KL):c.1331-4G>A rs779243484 0.00001
NM_004795.4(KL):c.1374G>C (p.Trp458Cys) rs762838530 0.00001
NM_004795.4(KL):c.1557T>A (p.Phe519Leu) rs750440983 0.00001
NM_004795.4(KL):c.1626C>T (p.Thr542=) rs746870927 0.00001
NM_004795.4(KL):c.1811C>A (p.Pro604His) rs751229348 0.00001
NM_004795.4(KL):c.1848G>A (p.Leu616=) rs1872157300 0.00001
NM_004795.4(KL):c.2300C>G (p.Ser767Cys) rs1872192864 0.00001
NM_004795.4(KL):c.254A>G (p.Lys85Arg) rs1190809246 0.00001
NM_004795.4(KL):c.257G>A (p.Gly86Asp) rs1477759912 0.00001
NM_004795.4(KL):c.2684T>C (p.Ile895Thr) rs387907441 0.00001
NM_004795.4(KL):c.2779C>T (p.Leu927Phe) rs777126851 0.00001
NM_004795.4(KL):c.2874T>G (p.Thr958=) rs746291771 0.00001
NM_004795.4(KL):c.2959G>A (p.Ala987Thr) rs755999183 0.00001
NM_004795.4(KL):c.535C>T (p.Arg179Trp) rs746435085 0.00001
NM_017654.4(SAMD9):c.2611G>T (p.Glu871Ter) rs746591776 0.00001
NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser) rs1290938428 0.00001
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter) rs767558735 0.00001
NM_020638.3(FGF23):c.*1134A>T rs1865034354 0.00001
NM_020638.3(FGF23):c.*1925A>G rs886049397 0.00001
NM_020638.3(FGF23):c.*614G>A rs886049401 0.00001
NM_020638.3(FGF23):c.*93G>A rs886049410 0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 0.00001
NM_020638.3(FGF23):c.673G>A (p.Gly225Arg) rs750025882 0.00001
NM_004482.3(GALNT3):c.-346G>A rs1683418237
NM_004482.3(GALNT3):c.-370_-366delGCCTC rs886055019
NM_004482.4(GALNT3):c.*308TA[7] rs140333197
NM_004482.4(GALNT3):c.*806G>A rs1688290292
NM_004482.4(GALNT3):c.*897T>C rs886055010
NM_004482.4(GALNT3):c.*934dup rs144647329
NM_004482.4(GALNT3):c.*937C>T rs886055009
NM_004482.4(GALNT3):c.-138T>C rs1683412634
NM_004482.4(GALNT3):c.-191C>A rs1683414225
NM_004482.4(GALNT3):c.1021T>C (p.Ser341Pro)
NM_004482.4(GALNT3):c.1033C>G (p.His345Asp)
NM_004482.4(GALNT3):c.1051A>G (p.Lys351Glu)
NM_004482.4(GALNT3):c.1088C>T (p.Ala363Val)
NM_004482.4(GALNT3):c.1112A>G (p.Lys371Arg)
NM_004482.4(GALNT3):c.1156A>G (p.Ile386Val)
NM_004482.4(GALNT3):c.1191A>C (p.Arg397Ser)
NM_004482.4(GALNT3):c.1268A>G (p.His423Arg)
NM_004482.4(GALNT3):c.1276C>T (p.Pro426Ser)
NM_004482.4(GALNT3):c.1418G>T (p.Arg473Ile)
NM_004482.4(GALNT3):c.1451A>C (p.Asn484Thr) rs886055014
NM_004482.4(GALNT3):c.1478A>C (p.Tyr493Ser)
NM_004482.4(GALNT3):c.1517C>T (p.Ser506Phe)
NM_004482.4(GALNT3):c.1531A>C (p.Ser511Arg)
NM_004482.4(GALNT3):c.1556A>G (p.Asp519Gly)
NM_004482.4(GALNT3):c.1567A>G (p.Asn523Asp)
NM_004482.4(GALNT3):c.1609G>C (p.Gly537Arg)
NM_004482.4(GALNT3):c.1626+6C>T rs774391241
NM_004482.4(GALNT3):c.1662C>G (p.His554Gln)
NM_004482.4(GALNT3):c.1691C>T (p.Ala564Val) rs377579661
NM_004482.4(GALNT3):c.170A>G (p.Lys57Arg)
NM_004482.4(GALNT3):c.1724C>T (p.Thr575Ile) rs1688323295
NM_004482.4(GALNT3):c.175A>G (p.Lys59Glu)
NM_004482.4(GALNT3):c.1812G>A (p.Met604Ile)
NM_004482.4(GALNT3):c.1846G>T (p.Val616Leu) rs769052242
NM_004482.4(GALNT3):c.19C>A (p.Leu7Ile)
NM_004482.4(GALNT3):c.209T>C (p.Val70Ala)
NM_004482.4(GALNT3):c.230T>C (p.Met77Thr)
NM_004482.4(GALNT3):c.263A>G (p.Gln88Arg)
NM_004482.4(GALNT3):c.365G>C (p.Gly122Ala)
NM_004482.4(GALNT3):c.367G>T (p.Ala123Ser)
NM_004482.4(GALNT3):c.370T>C (p.Ser124Pro)
NM_004482.4(GALNT3):c.404T>C (p.Val135Ala)
NM_004482.4(GALNT3):c.427C>T (p.Arg143Cys)
NM_004482.4(GALNT3):c.460G>A (p.Ala154Thr)
NM_004482.4(GALNT3):c.460G>T (p.Ala154Ser)
NM_004482.4(GALNT3):c.479T>G (p.Leu160Trp)
NM_004482.4(GALNT3):c.50A>G (p.His17Arg)
NM_004482.4(GALNT3):c.539G>A (p.Arg180His)
NM_004482.4(GALNT3):c.544C>T (p.Pro182Ser)
NM_004482.4(GALNT3):c.549C>A (p.Pro183=) rs144776270
NM_004482.4(GALNT3):c.594G>C (p.Trp198Cys)
NM_004482.4(GALNT3):c.613G>C (p.Val205Leu)
NM_004482.4(GALNT3):c.667G>A (p.Val223Met) rs1688610771
NM_004482.4(GALNT3):c.721A>G (p.Lys241Glu)
NM_004482.4(GALNT3):c.734T>C (p.Ile245Thr)
NM_004482.4(GALNT3):c.773T>G (p.Ile258Ser)
NM_004482.4(GALNT3):c.835C>A (p.His279Asn)
NM_004482.4(GALNT3):c.839-11G>T
NM_004482.4(GALNT3):c.874G>A (p.Ala292Thr)
NM_004482.4(GALNT3):c.896C>T (p.Thr299Met)
NM_004482.4(GALNT3):c.904G>T (p.Val302Leu)
NM_004482.4(GALNT3):c.983G>A (p.Arg328His)
NM_004795.4(KL):c.*1007T>C rs886050124
NM_004795.4(KL):c.*1182T>C rs886050125
NM_004795.4(KL):c.*1509T>G rs886050126
NM_004795.4(KL):c.*1603C>A rs886050128
NM_004795.4(KL):c.*1870G>A rs1000445864
NM_004795.4(KL):c.*1950C>A rs886050130
NM_004795.4(KL):c.*202_*205del rs886050122
NM_004795.4(KL):c.*203G>T rs763269257
NM_004795.4(KL):c.*218G>A rs947191941
NM_004795.4(KL):c.*263A>G rs1872331863
NM_004795.4(KL):c.*26T>G rs886050120
NM_004795.4(KL):c.*810G>A rs535918609
NM_004795.4(KL):c.*93A>C rs1872326031
NM_004795.4(KL):c.1014C>A (p.Pro338=) rs547049483
NM_004795.4(KL):c.1462TTG[1] (p.Leu489del) rs777919048
NM_004795.4(KL):c.1599+14C>G rs886050119
NM_004795.4(KL):c.1718T>C (p.Val573Ala) rs1872148254
NM_004795.4(KL):c.1873G>A (p.Glu625Lys) rs150287359
NM_004795.4(KL):c.191G>A (p.Gly64Asp) rs749006234
NM_004795.4(KL):c.2226C>T (p.Ser742=) rs201355613
NM_004795.4(KL):c.2296G>C (p.Gly766Arg) rs114752661
NM_004795.4(KL):c.2702-1G>C rs1566510826
NM_004795.4(KL):c.426C>G (p.Leu142=) rs771447026
NM_004795.4(KL):c.4C>T (p.Pro2Ser) rs1425467064
NM_004795.4(KL):c.611A>G (p.Tyr204Cys) rs1870383915
NM_004795.4(KL):c.656A>T (p.Tyr219Phe) rs1870387959
NM_004795.4(KL):c.721dup (p.Tyr241fs) rs2138184030
NM_004795.4(KL):c.764C>T (p.Pro255Leu) rs1870396175
NM_004795.4(KL):c.802G>A (p.Ala268Thr) rs1271557554
NM_004795.4(KL):c.875G>T (p.Gly292Val)
NM_004795.4(KL):c.974G>T (p.Gly325Val) rs1453773670
NM_017654.4(SAMD9):c.1252A>G (p.Asn418Asp) rs1455883160
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs) rs375515095
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) rs778749748
NM_017654.4(SAMD9):c.2509dup (p.Arg837fs) rs1554337029
NM_017654.4(SAMD9):c.2641G>A (p.Asp881Asn)
NM_017654.4(SAMD9):c.29del (p.Asn10fs) rs1356051307
NM_017654.4(SAMD9):c.3505C>T (p.Gln1169Ter) rs1554336918
NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln) rs1791543423
NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del) rs755666547
NM_017654.4(SAMD9):c.4413G>A (p.Met1471Ile) rs978197631
NM_017654.4(SAMD9):c.95del (p.His32fs) rs1085307093
NM_020638.3(FGF23):c.*1380TTC[1] rs550329870
NM_020638.3(FGF23):c.*1548T>G rs762018989
NM_020638.3(FGF23):c.*278G>C rs886049408
NM_020638.3(FGF23):c.*28C>G rs886049411
NM_020638.3(FGF23):c.*337_*340del rs886049407
NM_020638.3(FGF23):c.*340_*344del rs886049406
NM_020638.3(FGF23):c.*367_*372del rs58735464
NM_020638.3(FGF23):c.*368_*373del rs886049403
NM_020638.3(FGF23):c.*369_*372del rs58735464
NM_020638.3(FGF23):c.*372_*377del rs886049402
NM_020638.3(FGF23):c.*460A>T rs775907152
NM_020638.3(FGF23):c.*664A>T rs886049400
NM_020638.3(FGF23):c.-111C>T rs1865158291
NM_020638.3(FGF23):c.-55C>A rs760895385
NM_020638.3(FGF23):c.133G>A (p.Ala45Thr)
NM_020638.3(FGF23):c.13C>T (p.Arg5Cys)
NM_020638.3(FGF23):c.210_211del (p.Tyr70_Ser71delinsTer)
NM_020638.3(FGF23):c.211+12T>G rs1865152731
NM_020638.3(FGF23):c.277T>C (p.Tyr93His)
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.329C>T (p.Pro110Leu)
NM_020638.3(FGF23):c.330G>A (p.Pro110=)
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.428G>A (p.Arg143Lys)
NM_020638.3(FGF23):c.446T>C (p.Met149Thr)
NM_020638.3(FGF23):c.486C>G (p.Asn162Lys)
NM_020638.3(FGF23):c.529C>A (p.His177Asn)
NM_020638.3(FGF23):c.544G>A (p.Glu182Lys)
NM_020638.3(FGF23):c.550G>A (p.Asp184Asn)
NM_020638.3(FGF23):c.559C>T (p.Arg187Trp) rs190841442
NM_020638.3(FGF23):c.60C>T (p.Ser20=) rs763114180
NM_020638.3(FGF23):c.61G>A (p.Val21Ile)
NM_020638.3(FGF23):c.637G>A (p.Ala213Thr)
NM_020638.3(FGF23):c.640G>A (p.Glu214Lys)
NM_020638.3(FGF23):c.685G>T (p.Gly229Cys)
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
NM_020638.3(FGF23):c.706G>C (p.Ala236Pro)
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
NM_020638.3(FGF23):c.742G>A (p.Ala248Thr)
NM_020638.3(FGF23):c.746A>T (p.Lys249Met)
NM_020638.3(FGF23):c.751A>G (p.Ile251Val)

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