ClinVar Miner

List of variants reported as uncertain significance for Beckwith-Wiedemann syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
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HGVS dbSNP
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.107C>G (p.Pro36Arg) rs1564930749
NM_000076.2(CDKN1C):c.11C>T (p.Ala4Val) rs201368350
NM_000076.2(CDKN1C):c.131G>A (p.Arg44His) rs1477382841
NM_000076.2(CDKN1C):c.131G>T (p.Arg44Leu) rs1477382841
NM_000076.2(CDKN1C):c.143C>T (p.Ala48Val) rs774548414
NM_000076.2(CDKN1C):c.145C>A (p.Arg49Ser)
NM_000076.2(CDKN1C):c.172C>G (p.Gln58Glu)
NM_000076.2(CDKN1C):c.17T>C (p.Leu6Pro) rs201715947
NM_000076.2(CDKN1C):c.182G>C (p.Trp61Ser) rs1554938211
NM_000076.2(CDKN1C):c.19C>T (p.Arg7Cys) rs374634184
NM_000076.2(CDKN1C):c.218G>A (p.Gly73Asp) rs1060500179
NM_000076.2(CDKN1C):c.223G>A (p.Gly75Arg) rs1224283171
NM_000076.2(CDKN1C):c.226C>T (p.Arg76Cys) rs750526402
NM_000076.2(CDKN1C):c.227G>T (p.Arg76Leu) rs1312652368
NM_000076.2(CDKN1C):c.239C>T (p.Thr80Ile)
NM_000076.2(CDKN1C):c.263C>T (p.Pro88Leu)
NM_000076.2(CDKN1C):c.265G>A (p.Ala89Thr) rs1177512372
NM_000076.2(CDKN1C):c.271T>C (p.Tyr91His) rs1060499712
NM_000076.2(CDKN1C):c.295C>T (p.Arg99Cys)
NM_000076.2(CDKN1C):c.29C>A (p.Ser10Tyr) rs1420666038
NM_000076.2(CDKN1C):c.307C>G (p.Leu103Val) rs1416112498
NM_000076.2(CDKN1C):c.31A>G (p.Thr11Ala) rs1564930879
NM_000076.2(CDKN1C):c.341C>T (p.Ala114Val) rs1486019596
NM_000076.2(CDKN1C):c.349C>T (p.Pro117Ser) rs570636789
NM_000076.2(CDKN1C):c.350C>G (p.Pro117Arg) rs945890937
NM_000076.2(CDKN1C):c.350C>T (p.Pro117Leu)
NM_000076.2(CDKN1C):c.352C>G (p.Pro118Ala) rs772684721
NM_000076.2(CDKN1C):c.353C>T (p.Pro118Leu) rs771731330
NM_000076.2(CDKN1C):c.355C>T (p.Leu119Phe) rs1323156745
NM_000076.2(CDKN1C):c.358G>C (p.Glu120Gln) rs1220263188
NM_000076.2(CDKN1C):c.364G>A (p.Ala122Thr)
NM_000076.2(CDKN1C):c.366C>A (p.Ala122=) rs1554938097
NM_000076.2(CDKN1C):c.367G>T (p.Ala123Ser)
NM_000076.2(CDKN1C):c.373T>C (p.Ser125Pro) rs1319558011
NM_000076.2(CDKN1C):c.374C>A (p.Ser125Tyr) rs1564930282
NM_000076.2(CDKN1C):c.388G>A (p.Glu130Lys) rs1564930265
NM_000076.2(CDKN1C):c.395C>T (p.Ala132Val) rs1364155293
NM_000076.2(CDKN1C):c.398C>T (p.Pro133Leu)
NM_000076.2(CDKN1C):c.400G>C (p.Glu134Gln) rs1013695050
NM_000076.2(CDKN1C):c.410C>T (p.Pro137Leu) rs1445830484
NM_000076.2(CDKN1C):c.415G>A (p.Val139Ile) rs1183623363
NM_000076.2(CDKN1C):c.423_428CCCGGC[3] (p.142_143PA[3]) rs1201148541
NM_000076.2(CDKN1C):c.428C>T (p.Ala143Val)
NM_000076.2(CDKN1C):c.443C>A (p.Pro148Gln) rs754671425
NM_000076.2(CDKN1C):c.445C>T (p.Pro149Ser)
NM_000076.2(CDKN1C):c.446C>T (p.Pro149Leu) rs1060500175
NM_000076.2(CDKN1C):c.447_464del (p.Val151_Pro156del) rs1159599818
NM_000076.2(CDKN1C):c.44T>C (p.Leu15Pro)
NM_000076.2(CDKN1C):c.451G>A (p.Val151Ile) rs753342439
NM_000076.2(CDKN1C):c.455_460del (p.150_151PV[1]) rs1060500173
NM_000076.2(CDKN1C):c.472C>G (p.Pro158Ala)
NM_000076.2(CDKN1C):c.473C>T (p.Pro158Leu)
NM_000076.2(CDKN1C):c.475G>A (p.Ala159Thr) rs1237188823
NM_000076.2(CDKN1C):c.476C>A (p.Ala159Asp)
NM_000076.2(CDKN1C):c.482_487CTCCGG[3] (p.155_156AP[6]) rs1245402442
NM_000076.2(CDKN1C):c.486G>A (p.Pro162=)
NM_000076.2(CDKN1C):c.491C>T (p.Pro164Leu) rs1315960524
NM_000076.2(CDKN1C):c.492G>A (p.Pro164=) rs1273572500
NM_000076.2(CDKN1C):c.493G>A (p.Val165Ile) rs1060500172
NM_000076.2(CDKN1C):c.494_565del (p.Val165_Pro188del) rs1564929864
NM_000076.2(CDKN1C):c.498G>A (p.Ala166=) rs1361624164
NM_000076.2(CDKN1C):c.4T>G (p.Ser2Ala)
NM_000076.2(CDKN1C):c.508G>A (p.Ala170Thr)
NM_000076.2(CDKN1C):c.50C>T (p.Ala17Val) rs1477196859
NM_000076.2(CDKN1C):c.528G>A (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.529G>A (p.Val177Ile) rs1060500174
NM_000076.2(CDKN1C):c.533T>A (p.Leu178Gln)
NM_000076.2(CDKN1C):c.533T>C (p.Leu178Pro) rs1060500177
NM_000076.2(CDKN1C):c.539C>G (p.Pro180Arg)
NM_000076.2(CDKN1C):c.539C>T (p.Pro180Leu) rs113374868
NM_000076.2(CDKN1C):c.540G>A (p.Pro180=) rs1419249357
NM_000076.2(CDKN1C):c.542C>T (p.Ala181Val) rs1332953428
NM_000076.2(CDKN1C):c.557C>T (p.Pro186Leu) rs1167747239
NM_000076.2(CDKN1C):c.558G>A (p.Pro186=) rs1554937948
NM_000076.2(CDKN1C):c.570_581dup (p.179_180AP[10]) rs997267634
NM_000076.2(CDKN1C):c.571G>T (p.Ala191Ser) rs1060500180
NM_000076.2(CDKN1C):c.575C>G (p.Pro192Arg) rs1377428359
NM_000076.2(CDKN1C):c.584T>C (p.Val195Ala) rs1261515352
NM_000076.2(CDKN1C):c.586G>C (p.Ala196Pro) rs1281835164
NM_000076.2(CDKN1C):c.586_587delinsTT (p.Ala196Leu)
NM_000076.2(CDKN1C):c.593C>G (p.Pro198Arg)
NM_000076.2(CDKN1C):c.610C>G (p.Pro204Ala) rs1345683292
NM_000076.2(CDKN1C):c.611C>G (p.Pro204Arg)
NM_000076.2(CDKN1C):c.619G>A (p.Ala207Thr) rs1554937870
NM_000076.2(CDKN1C):c.61T>C (p.Phe21Leu)
NM_000076.2(CDKN1C):c.625G>A (p.Ala209Thr) rs750581456
NM_000076.2(CDKN1C):c.626C>G (p.Ala209Gly) rs1564929680
NM_000076.2(CDKN1C):c.631G>A (p.Ala211Thr) rs1060500178
NM_000076.2(CDKN1C):c.635C>T (p.Pro212Leu)
NM_000076.2(CDKN1C):c.641C>T (p.Pro214Leu) rs1564929606
NM_000076.2(CDKN1C):c.644C>A (p.Ala215Asp) rs1060500176
NM_000076.2(CDKN1C):c.644C>T (p.Ala215Val)
NM_000076.2(CDKN1C):c.653C>T (p.Ala218Val) rs1564929547
NM_000076.2(CDKN1C):c.659C>T (p.Pro220Leu)
NM_000076.2(CDKN1C):c.670G>A (p.Ala224Thr) rs528634940
NM_000076.2(CDKN1C):c.676C>G (p.Gln226Glu) rs483352987
NM_000076.2(CDKN1C):c.691G>A (p.Gly231Arg) rs1564929482
NM_000076.2(CDKN1C):c.698_699delinsAG (p.Arg233Gln) rs1554937778
NM_000076.2(CDKN1C):c.702C>T (p.Gly234=)
NM_000076.2(CDKN1C):c.709C>T (p.Pro237Ser) rs1240280374
NM_000076.2(CDKN1C):c.712C>T (p.Leu238Phe) rs878853640
NM_000076.2(CDKN1C):c.733G>A (p.Gly245Arg) rs1060500181
NM_000076.2(CDKN1C):c.73G>A (p.Val25Met)
NM_000076.2(CDKN1C):c.73G>C (p.Val25Leu)
NM_000076.2(CDKN1C):c.740C>T (p.Ser247Leu) rs104894200
NM_000076.2(CDKN1C):c.741G>A (p.Ser247=) rs1404692297
NM_000076.2(CDKN1C):c.742G>A (p.Gly248Arg) rs1564929381
NM_000076.2(CDKN1C):c.745C>T (p.Arg249Cys) rs878853641
NM_000076.2(CDKN1C):c.752C>T (p.Ala251Val)
NM_000076.2(CDKN1C):c.763G>A (p.Ala255Thr) rs760038657
NM_000076.2(CDKN1C):c.769G>T (p.Ala257Ser) rs754283907
NM_000076.2(CDKN1C):c.76C>G (p.Arg26Gly)
NM_000076.2(CDKN1C):c.770C>G (p.Ala257Gly) rs878853642
NM_000076.2(CDKN1C):c.775G>T (p.Ala259Ser)
NM_000076.2(CDKN1C):c.784G>A (p.Ala262Thr) rs1300586071
NM_000076.2(CDKN1C):c.802T>A (p.Ser268Thr) rs781340171
NM_000076.2(CDKN1C):c.808C>A (p.Pro270Thr) rs1416211722
NM_000076.2(CDKN1C):c.808C>T (p.Pro270Ser)
NM_000076.2(CDKN1C):c.818C>G (p.Ser273Cys) rs1564929254
NM_000076.2(CDKN1C):c.819C>T (p.Ser273=) rs1430282098
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_000076.2(CDKN1C):c.820+6C>T rs1564929236
NM_000076.2(CDKN1C):c.821-9C>A
NM_000076.2(CDKN1C):c.829G>C (p.Ala277Pro)
NM_000076.2(CDKN1C):c.837C>T (p.Arg279=) rs1564928743
NM_000076.2(CDKN1C):c.847G>C (p.Ala283Pro)
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000076.2(CDKN1C):c.860C>G (p.Ser287Trp)
NM_000076.2(CDKN1C):c.860C>T (p.Ser287Leu) rs928007699
NM_000076.2(CDKN1C):c.874C>G (p.Pro292Ala) rs1564928669
NM_000076.2(CDKN1C):c.886C>T (p.Pro296Ser) rs531059713
NM_000076.2(CDKN1C):c.898G>T (p.Ala300Ser)
NM_000076.2(CDKN1C):c.901G>T (p.Ala301Ser) rs749702191
NM_000076.2(CDKN1C):c.909C>T (p.Gly303=) rs377216794
NM_000076.2(CDKN1C):c.91C>A (p.Arg31Ser) rs1467420956
NM_000076.2(CDKN1C):c.91C>T (p.Arg31Cys) rs1467420956
NM_000218.2(KCNQ1):c.1128+5G>A rs76735093
NM_000218.2(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381
NM_000218.2(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963
NM_000218.2(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787
NM_000218.2(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820
NM_000218.2(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046
NM_000218.2(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.2(KCNQ1):c.514G>A (p.Val172Met) rs199472694
NM_000218.2(KCNQ1):c.644T>G (p.Val215Gly) rs368011737
NM_001130823.3(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.3(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.3(DNMT1):c.406C>T (p.Arg136Cys) rs138841970
NM_022455.4(NSD1):c.1159G>C (p.Glu387Gln) rs1374361789
NM_022455.4(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.4(NSD1):c.1414C>T (p.Leu472Phe)
NM_022455.4(NSD1):c.1477C>G (p.Pro493Ala) rs375051877
NM_022455.4(NSD1):c.1478C>T (p.Pro493Leu) rs140583358
NM_022455.4(NSD1):c.1483G>A (p.Ala495Thr) rs752490855
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
NM_022455.4(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.4(NSD1):c.1664C>T (p.Ala555Val)
NM_022455.4(NSD1):c.1729A>T (p.Thr577Ser)
NM_022455.4(NSD1):c.1879G>A (p.Gly627Ser)
NM_022455.4(NSD1):c.1906A>G (p.Ile636Val)
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys)
NM_022455.4(NSD1):c.2153G>A (p.Ser718Asn)
NM_022455.4(NSD1):c.2231C>T (p.Ser744Leu)
NM_022455.4(NSD1):c.2416A>G (p.Ile806Val) rs1562208925
NM_022455.4(NSD1):c.241A>G (p.Met81Val) rs763781326
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) rs377684553
NM_022455.4(NSD1):c.29G>A (p.Arg10Lys)
NM_022455.4(NSD1):c.3114G>T (p.Met1038Ile)
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3331G>T (p.Asp1111Tyr)
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3682G>C (p.Asp1228His)
NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409
NM_022455.4(NSD1):c.3757A>G (p.Ile1253Val)
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.4(NSD1):c.4091G>T (p.Gly1364Val) rs1554195876
NM_022455.4(NSD1):c.4118T>C (p.Leu1373Ser) rs1554195885
NM_022455.4(NSD1):c.4306T>C (p.Tyr1436His)
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.4378+3_4378+6delGAGT rs1562251194
NM_022455.4(NSD1):c.4428T>A (p.His1476Gln)
NM_022455.4(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.4(NSD1):c.4583C>T (p.Ser1528Phe)
NM_022455.4(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.4(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.4(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.4(NSD1):c.4988G>A (p.Arg1663His) rs1562269357
NM_022455.4(NSD1):c.5007C>G (p.His1669Gln) rs146414176
NM_022455.4(NSD1):c.5146+2dup
NM_022455.4(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.4(NSD1):c.5273A>G (p.Glu1758Gly)
NM_022455.4(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.4(NSD1):c.5310G>C (p.Trp1770Cys) rs1060501496
NM_022455.4(NSD1):c.5410T>A (p.Tyr1804Asn)
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.6258G>T (p.Lys2086Asn)
NM_022455.4(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.4(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.4(NSD1):c.6524G>A (p.Cys2175Tyr)
NM_022455.4(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.4(NSD1):c.6673C>G (p.Pro2225Ala)
NM_022455.4(NSD1):c.6680C>T (p.Pro2227Leu)
NM_022455.4(NSD1):c.6887T>C (p.Val2296Ala) rs754309202
NM_022455.4(NSD1):c.7016C>T (p.Pro2339Leu)
NM_022455.4(NSD1):c.7049T>C (p.Leu2350Pro) rs750785772
NM_022455.4(NSD1):c.7379A>G (p.Asp2460Gly) rs1406542990
NM_022455.4(NSD1):c.7414C>T (p.Pro2472Ser) rs143159061
NM_022455.4(NSD1):c.7531G>C (p.Asp2511His) rs575229932
NM_022455.4(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824
NM_022455.4(NSD1):c.7597C>G (p.Leu2533Val) rs398124386
NM_022455.4(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093
NM_022455.4(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.4(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779
NM_022455.4(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990
NM_022455.4(NSD1):c.793A>G (p.Ile265Val)
NM_022455.4(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.4(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615
NM_022455.4(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140
NM_022455.4(NSD1):c.816C>A (p.Asn272Lys) rs144524958

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