ClinVar Miner

List of variants studied for Beckwith-Wiedemann syndrome

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 494
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HGVS dbSNP
CDKN1C, 1-BP DEL/2-BP INS, 1086T-AG
H19, 1.8-KB DEL
H19, 5.3-KB DEL
KCNQ1OT1, DEL
NC_000005.9:g.(?_176562095)_(176722470_?)del
NC_000005.9:g.(?_176662802)_(176666886_?)del
NC_000011.9:g.(?_2905209)_(2906985_?)del
NC_000011.9:g.2023045G>A rs431825163
NG_016165.1:g.(170_?)_(?_2014)del
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.-84G>A rs188494894
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.123G>A (p.Glu41=) rs1468271941
NM_000076.2(CDKN1C):c.12G>C (p.Ala4=) rs1220484886
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.132C>T (p.Arg44=) rs149717696
NM_000076.2(CDKN1C):c.139C>T (p.Gln47Ter) rs137852766
NM_000076.2(CDKN1C):c.141G>A (p.Gln47=) rs1060503856
NM_000076.2(CDKN1C):c.143C>T (p.Ala48Val) rs774548414
NM_000076.2(CDKN1C):c.145C>A (p.Arg49Ser)
NM_000076.2(CDKN1C):c.15C>T (p.Ser5=) rs878853624
NM_000076.2(CDKN1C):c.171C>T (p.Asp57=) rs777465972
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.189_190insTTCCAGCTGG (p.Asp64fs) rs1554938197
NM_000076.2(CDKN1C):c.196del (p.Gln66fs) rs1554938194
NM_000076.2(CDKN1C):c.19C>T (p.Arg7Cys) rs374634184
NM_000076.2(CDKN1C):c.204C>T (p.Asp68=) rs1554938190
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.246G>A (p.Val82=) rs141005361
NM_000076.2(CDKN1C):c.258G>C (p.Ser86=) rs1015104953
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.310_311delinsG (p.Leu104fs) rs387906399
NM_000076.2(CDKN1C):c.31A>G (p.Thr11Ala) rs1564930879
NM_000076.2(CDKN1C):c.324C>T (p.Pro108=) rs534471786
NM_000076.2(CDKN1C):c.333dup (p.Ala112fs) rs786205235
NM_000076.2(CDKN1C):c.336G>C (p.Ala112=) rs931922290
NM_000076.2(CDKN1C):c.336G>T (p.Ala112=) rs931922290
NM_000076.2(CDKN1C):c.33G>T (p.Thr11=) rs780549417
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.357C>T (p.Leu119=) rs1060503864
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.384_391del (p.Leu129fs) rs1554938087
NM_000076.2(CDKN1C):c.387C>T (p.Leu129=) rs1426804435
NM_000076.2(CDKN1C):c.387del (p.Glu130fs)
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.400dup (p.Glu134fs) rs786205236
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.438C>G (p.Ser146=) rs1554938064
NM_000076.2(CDKN1C):c.443C>A (p.Pro148Gln) rs754671425
NM_000076.2(CDKN1C):c.444G>A (p.Pro148=) rs878853625
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.449del (p.Pro150fs) rs786205234
NM_000076.2(CDKN1C):c.44T>C (p.Leu15Pro)
NM_000076.2(CDKN1C):c.450A>T (p.Pro150=) rs1486402339
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.456G>A (p.Pro152=) rs878853626
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.483T>A (p.Ala161=) rs898729531
NM_000076.2(CDKN1C):c.486G>A (p.Pro162=)
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[1] (p.163_166APVA[1]) rs565544512
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[2] (p.163_166APVA[2]) rs565544512
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[4] (p.163_166APVA[4]) rs565544512
NM_000076.2(CDKN1C):c.488_499CTCCGGTCGCGG[5] (p.163_166APVA[5]) rs565544512
NM_000076.2(CDKN1C):c.488_505del (p.Ala163_Pro168del) rs1554937999
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_499del (p.Val165_Ala166del) rs878853627
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.5+2T>C rs587777866
NM_000076.2(CDKN1C):c.508G>A (p.Ala170Thr)
NM_000076.2(CDKN1C):c.50C>T (p.Ala17Val) rs1477196859
NM_000076.2(CDKN1C):c.512_517del (p.Ala171_Pro172del) rs1324090653
NM_000076.2(CDKN1C):c.512_529del (p.Ala171_Ala176del) rs1064792992
NM_000076.2(CDKN1C):c.520_525GCGGTC[1] (p.174_175AV[1]) rs889984547
NM_000076.2(CDKN1C):c.520_525GCGGTC[3] (p.174_175AV[3]) rs889984547
NM_000076.2(CDKN1C):c.525C>G (p.Val175=) rs878853628
NM_000076.2(CDKN1C):c.526_527delinsCT (p.Ala176Leu) rs1554937984
NM_000076.2(CDKN1C):c.528G>A (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.528G>C (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.537_542CCCGGC[1] (p.179_180AP[6]) rs878853629
NM_000076.2(CDKN1C):c.537_542CCCGGC[2] (p.179_180AP[7]) rs878853629
NM_000076.2(CDKN1C):c.537_542CCCGGC[4] (p.179_180AP[9]) rs878853629
NM_000076.2(CDKN1C):c.537_554del (p.179_180AP[5]) rs878853629
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.543_560del (p.179_180AP[5]) rs1064792991
NM_000076.2(CDKN1C):c.543_566del (p.179_180AP[4]) rs1486933065
NM_000076.2(CDKN1C):c.549_560del (p.179_180AP[6]) rs1249284743
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.555_560TCCGGC[2] (p.179_180AP[7]) rs878853632
NM_000076.2(CDKN1C):c.555_560TCCGGC[4] (p.179_180AP[9]) rs878853632
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.558_581del (p.179_180AP[4]) rs878853630
NM_000076.2(CDKN1C):c.558_581dup (p.179_180AP[12]) rs878853630
NM_000076.2(CDKN1C):c.560_561insCCCGGC (p.179_180AP[9]) rs878853631
NM_000076.2(CDKN1C):c.561T>C (p.Ala187=) rs384713
NM_000076.2(CDKN1C):c.567T>C (p.Ala189=) rs112196492
NM_000076.2(CDKN1C):c.570G>C (p.Pro190=) rs550978405
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.573_578dup (p.179_180AP[9]) rs1302209410
NM_000076.2(CDKN1C):c.575C>G (p.Pro192Arg) rs1377428359
NM_000076.2(CDKN1C):c.579T>C (p.Ala193=) rs1412788622
NM_000076.2(CDKN1C):c.579_596del (p.Val195_Pro200del) rs1203797892
NM_000076.2(CDKN1C):c.579_614del (p.Val195_Pro206del) rs1554937877
NM_000076.2(CDKN1C):c.582A>G (p.Pro194=) rs1340993922
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.588G>A (p.Ala196=) rs878853633
NM_000076.2(CDKN1C):c.588_593GGCCCC[1] (p.197_198AP[9]) rs1060503855
NM_000076.2(CDKN1C):c.588_593GGCCCC[3] (p.197_198AP[11]) rs1060503855
NM_000076.2(CDKN1C):c.593C>G (p.Pro198Arg)
NM_000076.2(CDKN1C):c.597C>T (p.Ala199=) rs1554937891
NM_000076.2(CDKN1C):c.600A>G (p.Pro200=) rs529326848
NM_000076.2(CDKN1C):c.600_605del (p.197_198AP[9]) rs1060503860
NM_000076.2(CDKN1C):c.600_605dup (p.197_198AP[11]) rs1060503860
NM_000076.2(CDKN1C):c.600_611del (p.197_198AP[8]) rs878853634
NM_000076.2(CDKN1C):c.600_611dup (p.197_198AP[12]) rs878853634
NM_000076.2(CDKN1C):c.600_617del (p.197_198AP[7]) rs878853636
NM_000076.2(CDKN1C):c.600_623del (p.197_198AP[6]) rs878853637
NM_000076.2(CDKN1C):c.600_623dup (p.197_198AP[14]) rs878853637
NM_000076.2(CDKN1C):c.600_629del (p.197_198AP[5]) rs1064792990
NM_000076.2(CDKN1C):c.600_629dup (p.197_198AP[15]) rs1064792990
NM_000076.2(CDKN1C):c.606_611GGCCCC[1] (p.197_198AP[7]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[2] (p.197_198AP[8]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[3] (p.197_198AP[9]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[5] (p.197_198AP[11]) rs759134767
NM_000076.2(CDKN1C):c.606_611GGCCCC[8] (p.197_198AP[14]) rs759134767
NM_000076.2(CDKN1C):c.610C>G (p.Pro204Ala) rs1345683292
NM_000076.2(CDKN1C):c.611C>G (p.Pro204Arg)
NM_000076.2(CDKN1C):c.611_635dup (p.Ala213fs) rs1554937847
NM_000076.2(CDKN1C):c.612G>A (p.Pro204=) rs794726872
NM_000076.2(CDKN1C):c.618G>A (p.Pro206=) rs1060503858
NM_000076.2(CDKN1C):c.619G>A (p.Ala207Thr) rs1554937870
NM_000076.2(CDKN1C):c.61T>C (p.Phe21Leu)
NM_000076.2(CDKN1C):c.620_649del (p.197_198AP[5]) rs878853638
NM_000076.2(CDKN1C):c.620_649dup (p.197_198AP[15]) rs878853638
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.626_649del (p.197_198AP[6]) rs778468310
NM_000076.2(CDKN1C):c.626_649dup (p.197_198AP[14]) rs778468310
NM_000076.2(CDKN1C):c.627C>T (p.Ala209=) rs1060503866
NM_000076.2(CDKN1C):c.629_630insGCTCCGGCCCC (p.Ala211fs) rs786205241
NM_000076.2(CDKN1C):c.630C>G (p.Pro210=) rs767656648
NM_000076.2(CDKN1C):c.630_635dup (p.197_198AP[11]) rs786205238
NM_000076.2(CDKN1C):c.630_641dup (p.197_198AP[12]) rs1380480846
NM_000076.2(CDKN1C):c.630_647del (p.197_198AP[7]) rs747360016
NM_000076.2(CDKN1C):c.631G>A (p.Ala211Thr) rs1060500178
NM_000076.2(CDKN1C):c.631delinsAA (p.Ala211fs) rs786205239
NM_000076.2(CDKN1C):c.632_633insACCGGC (p.197_198AP[11]) rs771450542
NM_000076.2(CDKN1C):c.632_637CCCCGG[1] (p.197_198AP[8]) rs772704243
NM_000076.2(CDKN1C):c.632_637CCCCGG[2] (p.197_198AP[9]) rs772704243
NM_000076.2(CDKN1C):c.632_637CCCCGG[4] (p.197_198AP[11]) rs772704243
NM_000076.2(CDKN1C):c.635C>T (p.Pro212Leu)
NM_000076.2(CDKN1C):c.635del (p.Pro212fs) rs786205237
NM_000076.2(CDKN1C):c.641C>T (p.Pro214Leu) rs1564929606
NM_000076.2(CDKN1C):c.641_644delinsGGG (p.Pro214fs) rs786205240
NM_000076.2(CDKN1C):c.644C>A (p.Ala215Asp) rs1060500176
NM_000076.2(CDKN1C):c.644C>T (p.Ala215Val)
NM_000076.2(CDKN1C):c.647del (p.Pro216fs) rs1564929584
NM_000076.2(CDKN1C):c.653C>T (p.Ala218Val) rs1564929547
NM_000076.2(CDKN1C):c.659C>T (p.Pro220Leu)
NM_000076.2(CDKN1C):c.669C>T (p.Ser223=) rs540923047
NM_000076.2(CDKN1C):c.670G>A (p.Ala224Thr) rs528634940
NM_000076.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929520
NM_000076.2(CDKN1C):c.676C>G (p.Gln226Glu) rs483352987
NM_000076.2(CDKN1C):c.684G>T (p.Ala228=) rs761539484
NM_000076.2(CDKN1C):c.691G>A (p.Gly231Arg) rs1564929482
NM_000076.2(CDKN1C):c.693G>A (p.Gly231=) rs1554937788
NM_000076.2(CDKN1C):c.694C>T (p.Gln232Ter) rs797045445
NM_000076.2(CDKN1C):c.698_699delinsAG (p.Arg233Gln) rs1554937778
NM_000076.2(CDKN1C):c.702C>G (p.Gly234=) rs546016935
NM_000076.2(CDKN1C):c.702C>T (p.Gly234=)
NM_000076.2(CDKN1C):c.706G>T (p.Glu236Ter) rs1564929426
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
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.72A>G (p.Leu24=) rs3852522
NM_000076.2(CDKN1C):c.732G>C (p.Ser244=) rs751650132
NM_000076.2(CDKN1C):c.733G>A (p.Gly245Arg) rs1060500181
NM_000076.2(CDKN1C):c.735G>A (p.Gly245=) rs556682082
NM_000076.2(CDKN1C):c.73G>A (p.Val25Met)
NM_000076.2(CDKN1C):c.73G>C (p.Val25Leu)
NM_000076.2(CDKN1C):c.740C>A (p.Ser247Ter) rs104894200
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.752_763delinsGTGC (p.Ala251fs) rs1554937726
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.78C>T (p.Arg26=) rs1360965916
NM_000076.2(CDKN1C):c.801G>C (p.Leu267=) rs745815931
NM_000076.2(CDKN1C):c.802T>A (p.Ser268Thr) rs781340171
NM_000076.2(CDKN1C):c.804C>A (p.Ser268=) rs747104008
NM_000076.2(CDKN1C):c.804C>T (p.Ser268=) rs747104008
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+10G>A rs777855717
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_000076.2(CDKN1C):c.820+6C>T rs1564929236
NM_000076.2(CDKN1C):c.821-5C>G rs775227462
NM_000076.2(CDKN1C):c.821-5C>T rs775227462
NM_000076.2(CDKN1C):c.821-8G>T rs762520730
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.845C>A (p.Ser282Ter) rs267606716
NM_000076.2(CDKN1C):c.845C>G (p.Ser282Ter) rs267606716
NM_000076.2(CDKN1C):c.847G>C (p.Ala283Pro)
NM_000076.2(CDKN1C):c.848C>T (p.Ala283Val) rs776541692
NM_000076.2(CDKN1C):c.849G>A (p.Ala283=) rs1554937506
NM_000076.2(CDKN1C):c.860C>G (p.Ser287Trp)
NM_000076.2(CDKN1C):c.860C>T (p.Ser287Leu) rs928007699
NM_000076.2(CDKN1C):c.861G>A (p.Ser287=) rs373252940
NM_000076.2(CDKN1C):c.861G>C (p.Ser287=) rs373252940
NM_000076.2(CDKN1C):c.864G>A (p.Ser288=) rs370564696
NM_000076.2(CDKN1C):c.874C>G (p.Pro292Ala) rs1564928669
NM_000076.2(CDKN1C):c.876C>G (p.Pro292=) rs773166985
NM_000076.2(CDKN1C):c.886C>T (p.Pro296Ser) rs531059713
NM_000076.2(CDKN1C):c.888C>T (p.Pro296=) rs779172459
NM_000076.2(CDKN1C):c.897C>T (p.Ser299=) rs1554937479
NM_000076.2(CDKN1C):c.898G>T (p.Ala300Ser)
NM_000076.2(CDKN1C):c.901G>T (p.Ala301Ser) rs749702191
NM_000076.2(CDKN1C):c.906T>C (p.Pro302=) rs780417247
NM_000076.2(CDKN1C):c.906T>G (p.Pro302=) rs780417247
NM_000076.2(CDKN1C):c.909C>T (p.Gly303=) rs377216794
NM_000076.2(CDKN1C):c.90C>T (p.Cys30=) rs759365577
NM_000076.2(CDKN1C):c.918G>C (p.Ser306=) rs1060503861
NM_000076.2(CDKN1C):c.91C>A (p.Arg31Ser) rs1467420956
NM_000076.2(CDKN1C):c.91C>T (p.Arg31Cys) rs1467420956
NM_000076.2(CDKN1C):c.950G>A (p.Ter317=) rs1363802623
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
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.1588C>T (p.Gln530Ter) rs397508097
NM_000218.2(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
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_000218.2(KCNQ1):c.692G>A (p.Arg231His) rs199472709
NM_000218.2(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
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.1046_1048delinsT (p.Thr349fs)
NM_022455.4(NSD1):c.1149C>T (p.Ile383=) rs34921128
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.1492C>T (p.Arg498Ter)
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
NM_022455.4(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.4(NSD1):c.1515T>C (p.Asn505=) rs114747882
NM_022455.4(NSD1):c.1558G>A (p.Ala520Thr) rs559617787
NM_022455.4(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.4(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.4(NSD1):c.1664C>T (p.Ala555Val)
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1729A>T (p.Thr577Ser)
NM_022455.4(NSD1):c.1760del (p.Gly587fs)
NM_022455.4(NSD1):c.1792T>C (p.Leu598=) rs28932176
NM_022455.4(NSD1):c.1797C>T (p.Ile599=) rs1554189107
NM_022455.4(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.4(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.4(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.4(NSD1):c.1879G>A (p.Gly627Ser)
NM_022455.4(NSD1):c.1906A>G (p.Ile636Val)
NM_022455.4(NSD1):c.1980C>T (p.Asn660=) rs140072393
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys)
NM_022455.4(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.4(NSD1):c.2153G>A (p.Ser718Asn)
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2231C>T (p.Ser744Leu)
NM_022455.4(NSD1):c.2250_2251TC[3] (p.Pro753fs)
NM_022455.4(NSD1):c.2295C>T (p.Asn765=) rs146767413
NM_022455.4(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.4(NSD1):c.2331A>C (p.Leu777=) rs772447375
NM_022455.4(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2340G>A (p.Ser780=) rs766703389
NM_022455.4(NSD1):c.2350C>T (p.Gln784Ter) rs374740802
NM_022455.4(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
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.2450C>T (p.Ser817Phe) rs115722008
NM_022455.4(NSD1):c.2465C>G (p.Ser822Cys) rs377684553
NM_022455.4(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.4(NSD1):c.2652A>G (p.Pro884=) rs1060504243
NM_022455.4(NSD1):c.2696T>C (p.Ile899Thr) rs142703625
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.29G>A (p.Arg10Lys)
NM_022455.4(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.4(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179
NM_022455.4(NSD1):c.3114G>T (p.Met1038Ile)
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3286C>T (p.His1096Tyr) rs202208033
NM_022455.4(NSD1):c.3330C>T (p.Phe1110=) rs541077303
NM_022455.4(NSD1):c.3331G>T (p.Asp1111Tyr)
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022455.4(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.4(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.4(NSD1):c.3657_3658AG[1] (p.Glu1220fs) rs587784104
NM_022455.4(NSD1):c.3682G>C (p.Asp1228His)
NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409
NM_022455.4(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637
NM_022455.4(NSD1):c.3757A>G (p.Ile1253Val)
NM_022455.4(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736
NM_022455.4(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.4(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.4(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
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.4213C>T (p.Gln1405Ter)
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.4379-2A>G
NM_022455.4(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.4(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.4(NSD1):c.4428T>A (p.His1476Gln)
NM_022455.4(NSD1):c.4473G>T (p.Ser1491=) rs150920473
NM_022455.4(NSD1):c.4520C>T (p.Thr1507Met) rs144900277
NM_022455.4(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.4(NSD1):c.4583C>T (p.Ser1528Phe)
NM_022455.4(NSD1):c.4605C>T (p.Arg1535=) rs140229717
NM_022455.4(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.4(NSD1):c.4665G>A (p.Leu1555=) rs779537845
NM_022455.4(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.4(NSD1):c.480C>T (p.Asp160=) rs79427433
NM_022455.4(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.4(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
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.5020del (p.Cys1674fs)
NM_022455.4(NSD1):c.5146+2dup
NM_022455.4(NSD1):c.5149G>C (p.Gly1717Arg) rs1562278357
NM_022455.4(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.4(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.4(NSD1):c.5273A>G (p.Glu1758Gly)
NM_022455.4(NSD1):c.5276T>C (p.Ile1759Thr) rs1060501498
NM_022455.4(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.4(NSD1):c.5303+1G>C rs587784141
NM_022455.4(NSD1):c.5304-1G>C rs863224905
NM_022455.4(NSD1):c.5310G>C (p.Trp1770Cys) rs1060501496
NM_022455.4(NSD1):c.5332C>T (p.Arg1778Ter) rs794727176
NM_022455.4(NSD1):c.5382C>T (p.Phe1794=) rs878855076
NM_022455.4(NSD1):c.5410T>A (p.Tyr1804Asn)
NM_022455.4(NSD1):c.5431C>T (p.Arg1811Ter) rs587784148
NM_022455.4(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.4(NSD1):c.549C>T (p.Ile183=) rs758535770
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5736C>G (p.Ile1912Met) rs1562292890
NM_022455.4(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022455.4(NSD1):c.5849T>G (p.Leu1950Ter)
NM_022455.4(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.5892+1G>A rs886039579
NM_022455.4(NSD1):c.5927T>C (p.Ile1976Thr) rs587784167
NM_022455.4(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.4(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.4(NSD1):c.6001C>T (p.Leu2001=) rs587784172
NM_022455.4(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.4(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.4(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.4(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6152-5T>G
NM_022455.4(NSD1):c.6258G>T (p.Lys2086Asn)
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.4(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.4(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.4(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.4(NSD1):c.639C>T (p.Ser213=) rs755931458
NM_022455.4(NSD1):c.6424T>G (p.Tyr2142Asp) rs1562305920
NM_022455.4(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.4(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.4(NSD1):c.6444T>C (p.Asn2148=) rs146601031
NM_022455.4(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
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.6750G>A (p.Met2250Ile) rs35848863
NM_022455.4(NSD1):c.6782T>C (p.Met2261Thr) rs34165241
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.7145C>T (p.Thr2382Ile) rs148027433
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.4(NSD1):c.7350T>C (p.Asn2450=) rs200241618
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.7452A>G (p.Pro2484=) rs146676933
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.760C>T (p.Leu254Phe) rs149334244
NM_022455.4(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093
NM_022455.4(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455
NM_022455.4(NSD1):c.7690G>T (p.Glu2564Ter)
NM_022455.4(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.4(NSD1):c.7780G>A (p.Ala2594Thr) rs146010779
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022455.4(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990
NM_022455.4(NSD1):c.7908C>T (p.Leu2636=) rs143159630
NM_022455.4(NSD1):c.7914C>T (p.Pro2638=) rs781650846
NM_022455.4(NSD1):c.793A>G (p.Ile265Val)
NM_022455.4(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.4(NSD1):c.8025A>G (p.Gln2675=) rs199895437
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
NM_022455.4(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.4(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
NR_002196.1(H19):n.-7080_-1781del
NR_131224.1(H19):n.-297A>C rs587777745
NR_131224.1(H19):n.-317_-297del rs431825165
NR_131224.1(H19):n.249+1110G>T rs431825167
NR_131224.1(H19):n.249+135C>T rs431825164
NR_131224.1(H19):n.249+189G>T rs431825168
NR_131224.1(H19):n.249+510A>T rs431825166
NR_131224.1(H19):n.249+613T>A rs431825169
Single allele

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