ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 328
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HGVS dbSNP
NC_000011.10:g.(?_2883979)_(2885755_?)dup
NM_000076.2(CDKN1C):c.-266G>A rs147317732
NM_000076.2(CDKN1C):c.820+1G>A rs1554937699
NM_001122630.2(CDKN1C):c.-10-13C>T rs201368350
NM_001122630.2(CDKN1C):c.-10-20T>G rs748680303
NM_001122630.2(CDKN1C):c.-10-23A>G
NM_001122630.2(CDKN1C):c.-10-5C>T rs374634184
NM_001122630.2(CDKN1C):c.-10-7T>C rs201715947
NM_001122630.2(CDKN1C):c.-3A>G rs1564930879
NM_001122630.2(CDKN1C):c.-5C>A rs1420666038
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys)
NM_001122630.2(CDKN1C):c.110C>T (p.Ala37Val) rs774548414
NM_001122630.2(CDKN1C):c.112C>A (p.Arg38Ser) rs749713233
NM_001122630.2(CDKN1C):c.112C>T (p.Arg38Cys)
NM_001122630.2(CDKN1C):c.11T>C (p.Leu4Pro) rs756961090
NM_001122630.2(CDKN1C):c.130G>T (p.Ala44Ser)
NM_001122630.2(CDKN1C):c.139C>G (p.Gln47Glu) rs1450572665
NM_001122630.2(CDKN1C):c.140A>G (p.Gln47Arg)
NM_001122630.2(CDKN1C):c.142A>G (p.Asn48Asp)
NM_001122630.2(CDKN1C):c.149G>C (p.Trp50Ser) rs1554938211
NM_001122630.2(CDKN1C):c.152_160del (p.Asp51_Phe54delinsVal)
NM_001122630.2(CDKN1C):c.16G>C (p.Ala6Pro)
NM_001122630.2(CDKN1C):c.17C>T (p.Ala6Val) rs1477196859
NM_001122630.2(CDKN1C):c.182G>A (p.Arg61Gln)
NM_001122630.2(CDKN1C):c.184G>A (p.Gly62Ser)
NM_001122630.2(CDKN1C):c.185G>A (p.Gly62Asp) rs1060500179
NM_001122630.2(CDKN1C):c.190G>A (p.Gly64Arg) rs1224283171
NM_001122630.2(CDKN1C):c.193C>T (p.Arg65Cys) rs750526402
NM_001122630.2(CDKN1C):c.194G>T (p.Arg65Leu) rs1312652368
NM_001122630.2(CDKN1C):c.206C>T (p.Thr69Ile) rs1475576590
NM_001122630.2(CDKN1C):c.208G>C (p.Glu70Gln)
NM_001122630.2(CDKN1C):c.223T>G (p.Ser75Ala)
NM_001122630.2(CDKN1C):c.230C>T (p.Pro77Leu) rs1590151038
NM_001122630.2(CDKN1C):c.232G>A (p.Ala78Thr) rs1177512372
NM_001122630.2(CDKN1C):c.233C>T (p.Ala78Val)
NM_001122630.2(CDKN1C):c.238T>C (p.Tyr80His) rs1060499712
NM_001122630.2(CDKN1C):c.241C>A (p.Arg81Ser)
NM_001122630.2(CDKN1C):c.262C>T (p.Arg88Cys) rs1356534188
NM_001122630.2(CDKN1C):c.274C>G (p.Leu92Val) rs1416112498
NM_001122630.2(CDKN1C):c.283C>T (p.Pro95Ser)
NM_001122630.2(CDKN1C):c.284C>T (p.Pro95Leu)
NM_001122630.2(CDKN1C):c.287G>A (p.Arg96Gln)
NM_001122630.2(CDKN1C):c.28T>C (p.Phe10Leu) rs1590151638
NM_001122630.2(CDKN1C):c.295_296delinsTT (p.Ala99Leu)
NM_001122630.2(CDKN1C):c.298G>C (p.Val100Leu)
NM_001122630.2(CDKN1C):c.308C>T (p.Ala103Val) rs1486019596
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser) rs570636789
NM_001122630.2(CDKN1C):c.317C>G (p.Pro106Arg) rs945890937
NM_001122630.2(CDKN1C):c.317C>T (p.Pro106Leu) rs945890937
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721
NM_001122630.2(CDKN1C):c.322C>T (p.Leu108Phe) rs1323156745
NM_001122630.2(CDKN1C):c.325G>C (p.Glu109Gln) rs1220263188
NM_001122630.2(CDKN1C):c.331G>A (p.Ala111Thr) rs551863674
NM_001122630.2(CDKN1C):c.333C>A (p.Ala111=) rs1554938097
NM_001122630.2(CDKN1C):c.334G>T (p.Ala112Ser) rs1395949690
NM_001122630.2(CDKN1C):c.340T>C (p.Ser114Pro) rs1319558011
NM_001122630.2(CDKN1C):c.341C>A (p.Ser114Tyr) rs1564930282
NM_001122630.2(CDKN1C):c.343C>T (p.Leu115Phe)
NM_001122630.2(CDKN1C):c.355G>A (p.Glu119Lys) rs1564930265
NM_001122630.2(CDKN1C):c.356A>T (p.Glu119Val)
NM_001122630.2(CDKN1C):c.358G>A (p.Glu120Lys)
NM_001122630.2(CDKN1C):c.361G>A (p.Ala121Thr)
NM_001122630.2(CDKN1C):c.362C>T (p.Ala121Val) rs1364155293
NM_001122630.2(CDKN1C):c.365C>T (p.Pro122Leu) rs1590150577
NM_001122630.2(CDKN1C):c.367G>C (p.Glu123Gln) rs1013695050
NM_001122630.2(CDKN1C):c.372G>T (p.Gln124His)
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) rs1445830484
NM_001122630.2(CDKN1C):c.382G>A (p.Val128Ile) rs1183623363
NM_001122630.2(CDKN1C):c.385C>T (p.Pro129Ser)
NM_001122630.2(CDKN1C):c.390_395CCCGGC[3] (p.131_132PA[3]) rs1201148541
NM_001122630.2(CDKN1C):c.395C>T (p.Ala132Val) rs896475967
NM_001122630.2(CDKN1C):c.398C>T (p.Pro133Leu)
NM_001122630.2(CDKN1C):c.399G>A (p.Pro133=)
NM_001122630.2(CDKN1C):c.407C>A (p.Thr136Asn)
NM_001122630.2(CDKN1C):c.40G>A (p.Val14Met) rs758244300
NM_001122630.2(CDKN1C):c.40G>C (p.Val14Leu) rs758244300
NM_001122630.2(CDKN1C):c.410C>A (p.Pro137Gln) rs754671425
NM_001122630.2(CDKN1C):c.412C>T (p.Pro138Ser) rs1590150454
NM_001122630.2(CDKN1C):c.413C>T (p.Pro138Leu) rs1060500175
NM_001122630.2(CDKN1C):c.414_431del (p.Val140_Pro145del) rs1159599818
NM_001122630.2(CDKN1C):c.418G>A (p.Val140Ile) rs753342439
NM_001122630.2(CDKN1C):c.422C>T (p.Pro141Leu)
NM_001122630.2(CDKN1C):c.422_427del (p.139_140PV[1]) rs1060500173
NM_001122630.2(CDKN1C):c.425T>C (p.Val142Ala)
NM_001122630.2(CDKN1C):c.425_442dup (p.Val142_Pro147dup)
NM_001122630.2(CDKN1C):c.430G>C (p.Ala144Pro)
NM_001122630.2(CDKN1C):c.436G>C (p.Ala146Pro)
NM_001122630.2(CDKN1C):c.439C>G (p.Pro147Ala) rs483352981
NM_001122630.2(CDKN1C):c.43C>G (p.Arg15Gly) rs765255367
NM_001122630.2(CDKN1C):c.440C>T (p.Pro147Leu) rs1320293569
NM_001122630.2(CDKN1C):c.442G>A (p.Ala148Thr) rs1237188823
NM_001122630.2(CDKN1C):c.442G>C (p.Ala148Pro)
NM_001122630.2(CDKN1C):c.443C>A (p.Ala148Asp) rs372633
NM_001122630.2(CDKN1C):c.443C>T (p.Ala148Val)
NM_001122630.2(CDKN1C):c.449_454CTCCGG[3] (p.144_145AP[6]) rs1245402442
NM_001122630.2(CDKN1C):c.451C>T (p.Pro151Ser)
NM_001122630.2(CDKN1C):c.452C>T (p.Pro151Leu)
NM_001122630.2(CDKN1C):c.453G>A (p.Pro151=) rs1262607893
NM_001122630.2(CDKN1C):c.457C>G (p.Pro153Ala)
NM_001122630.2(CDKN1C):c.458C>T (p.Pro153Leu) rs1315960524
NM_001122630.2(CDKN1C):c.459G>A (p.Pro153=) rs1273572500
NM_001122630.2(CDKN1C):c.460G>A (p.Val154Ile) rs1060500172
NM_001122630.2(CDKN1C):c.461_532del (p.Val154_Pro177del) rs1564929864
NM_001122630.2(CDKN1C):c.465G>A (p.Ala155=) rs1361624164
NM_001122630.2(CDKN1C):c.475G>A (p.Ala159Thr) rs1590150209
NM_001122630.2(CDKN1C):c.479C>T (p.Ala160Val)
NM_001122630.2(CDKN1C):c.47C>T (p.Thr16Ile)
NM_001122630.2(CDKN1C):c.485T>C (p.Val162Ala)
NM_001122630.2(CDKN1C):c.495G>A (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.496G>A (p.Val166Ile) rs1060500174
NM_001122630.2(CDKN1C):c.49A>G (p.Ser17Gly)
NM_001122630.2(CDKN1C):c.500T>A (p.Leu167Gln) rs1060500177
NM_001122630.2(CDKN1C):c.503C>T (p.Ala168Val)
NM_001122630.2(CDKN1C):c.506C>G (p.Pro169Arg) rs113374868
NM_001122630.2(CDKN1C):c.506C>T (p.Pro169Leu) rs113374868
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=) rs1419249357
NM_001122630.2(CDKN1C):c.508G>A (p.Ala170Thr)
NM_001122630.2(CDKN1C):c.509C>A (p.Ala170Asp)
NM_001122630.2(CDKN1C):c.509C>T (p.Ala170Val) rs1332953428
NM_001122630.2(CDKN1C):c.524C>T (p.Pro175Leu) rs1167747239
NM_001122630.2(CDKN1C):c.525G>A (p.Pro175=) rs1554937948
NM_001122630.2(CDKN1C):c.527C>T (p.Ala176Val)
NM_001122630.2(CDKN1C):c.529C>A (p.Pro177Thr)
NM_001122630.2(CDKN1C):c.530C>T (p.Pro177Leu)
NM_001122630.2(CDKN1C):c.536C>T (p.Pro179Leu)
NM_001122630.2(CDKN1C):c.538G>T (p.Ala180Ser) rs1060500180
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359
NM_001122630.2(CDKN1C):c.543_566dup (p.Val184_Pro191dup)
NM_001122630.2(CDKN1C):c.544G>T (p.Ala182Ser)
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352
NM_001122630.2(CDKN1C):c.553G>C (p.Ala185Pro) rs1281835164
NM_001122630.2(CDKN1C):c.553_554delinsTT (p.Ala185Leu) rs1590149719
NM_001122630.2(CDKN1C):c.560C>G (p.Pro187Arg) rs2583439
NM_001122630.2(CDKN1C):c.577C>G (p.Pro193Ala) rs1345683292
NM_001122630.2(CDKN1C):c.578C>G (p.Pro193Arg) rs2583440
NM_001122630.2(CDKN1C):c.578C>T (p.Pro193Leu)
NM_001122630.2(CDKN1C):c.586G>A (p.Ala196Thr) rs1554937870
NM_001122630.2(CDKN1C):c.58C>A (p.Arg20Ser) rs1467420956
NM_001122630.2(CDKN1C):c.58C>T (p.Arg20Cys) rs1467420956
NM_001122630.2(CDKN1C):c.592G>A (p.Ala198Thr) rs750581456
NM_001122630.2(CDKN1C):c.593C>G (p.Ala198Gly) rs1564929680
NM_001122630.2(CDKN1C):c.597C>A (p.Pro199=)
NM_001122630.2(CDKN1C):c.598G>A (p.Ala200Thr) rs1060500178
NM_001122630.2(CDKN1C):c.602C>T (p.Pro201Leu) rs1590149394
NM_001122630.2(CDKN1C):c.608C>T (p.Pro203Leu) rs1564929606
NM_001122630.2(CDKN1C):c.611C>A (p.Ala204Asp) rs1060500176
NM_001122630.2(CDKN1C):c.611C>T (p.Ala204Val) rs1060500176
NM_001122630.2(CDKN1C):c.615G>A (p.Pro205=)
NM_001122630.2(CDKN1C):c.620C>T (p.Ala207Val) rs1564929547
NM_001122630.2(CDKN1C):c.625C>A (p.Pro209Thr)
NM_001122630.2(CDKN1C):c.626C>T (p.Pro209Leu) rs763289302
NM_001122630.2(CDKN1C):c.653A>C (p.Asn218Thr)
NM_001122630.2(CDKN1C):c.658G>A (p.Gly220Arg) rs1564929482
NM_001122630.2(CDKN1C):c.665_666delinsAG (p.Arg222Gln) rs1554937778
NM_001122630.2(CDKN1C):c.667G>T (p.Gly223Cys)
NM_001122630.2(CDKN1C):c.669C>T (p.Gly223=) rs546016935
NM_001122630.2(CDKN1C):c.676C>T (p.Pro226Ser) rs1240280374
NM_001122630.2(CDKN1C):c.677C>T (p.Pro226Leu)
NM_001122630.2(CDKN1C):c.679C>T (p.Leu227Phe) rs878853640
NM_001122630.2(CDKN1C):c.700G>A (p.Gly234Arg) rs1060500181
NM_001122630.2(CDKN1C):c.707C>T (p.Ser236Leu) rs104894200
NM_001122630.2(CDKN1C):c.708G>A (p.Ser236=) rs1404692297
NM_001122630.2(CDKN1C):c.709G>A (p.Gly237Arg) rs1564929381
NM_001122630.2(CDKN1C):c.712C>T (p.Arg238Cys) rs878853641
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916
NM_001122630.2(CDKN1C):c.720G>A (p.Ala240=)
NM_001122630.2(CDKN1C):c.730G>A (p.Ala244Thr) rs760038657
NM_001122630.2(CDKN1C):c.736G>T (p.Ala246Ser) rs754283907
NM_001122630.2(CDKN1C):c.737C>G (p.Ala246Gly) rs878853642
NM_001122630.2(CDKN1C):c.742G>T (p.Ala248Ser) rs773881541
NM_001122630.2(CDKN1C):c.746A>G (p.Asn249Ser)
NM_001122630.2(CDKN1C):c.748G>A (p.Gly250Ser)
NM_001122630.2(CDKN1C):c.74C>G (p.Pro25Arg) rs1564930749
NM_001122630.2(CDKN1C):c.751G>A (p.Ala251Thr) rs1300586071
NM_001122630.2(CDKN1C):c.761A>G (p.Lys254Arg)
NM_001122630.2(CDKN1C):c.769T>A (p.Ser257Thr) rs781340171
NM_001122630.2(CDKN1C):c.772G>C (p.Gly258Arg)
NM_001122630.2(CDKN1C):c.775C>A (p.Pro259Thr) rs1416211722
NM_001122630.2(CDKN1C):c.775C>T (p.Pro259Ser) rs1416211722
NM_001122630.2(CDKN1C):c.785C>G (p.Ser262Cys) rs1564929254
NM_001122630.2(CDKN1C):c.786C>T (p.Ser262=) rs1430282098
NM_001122630.2(CDKN1C):c.787+6C>T rs1564929236
NM_001122630.2(CDKN1C):c.788-9C>A rs483352995
NM_001122630.2(CDKN1C):c.796G>C (p.Ala266Pro) rs759474789
NM_001122630.2(CDKN1C):c.796G>T (p.Ala266Ser)
NM_001122630.2(CDKN1C):c.79G>A (p.Asp27Asn)
NM_001122630.2(CDKN1C):c.804C>T (p.Arg268=) rs1564928743
NM_001122630.2(CDKN1C):c.814G>C (p.Ala272Pro) rs1377763757
NM_001122630.2(CDKN1C):c.815C>T (p.Ala272Val) rs776541692
NM_001122630.2(CDKN1C):c.827C>G (p.Ser276Trp) rs928007699
NM_001122630.2(CDKN1C):c.827C>T (p.Ser276Leu) rs928007699
NM_001122630.2(CDKN1C):c.832G>A (p.Gly278Ser)
NM_001122630.2(CDKN1C):c.832G>T (p.Gly278Cys)
NM_001122630.2(CDKN1C):c.841C>G (p.Pro281Ala) rs1564928669
NM_001122630.2(CDKN1C):c.853C>G (p.Pro285Ala)
NM_001122630.2(CDKN1C):c.853C>T (p.Pro285Ser) rs531059713
NM_001122630.2(CDKN1C):c.865G>T (p.Ala289Ser) rs755160554
NM_001122630.2(CDKN1C):c.868G>T (p.Ala290Ser) rs749702191
NM_001122630.2(CDKN1C):c.876C>T (p.Gly292=) rs377216794
NM_001122630.2(CDKN1C):c.881G>T (p.Gly294Val)
NM_001122630.2(CDKN1C):c.885G>A (p.Ser295=)
NM_001122630.2(CDKN1C):c.886G>A (p.Val296Met)
NM_001122630.2(CDKN1C):c.903C>T (p.Arg301=)
NM_001122630.2(CDKN1C):c.908G>A (p.Arg303Lys)
NM_001122630.2(CDKN1C):c.97C>T (p.Arg33Cys)
NM_001122630.2(CDKN1C):c.98G>A (p.Arg33His) rs1477382841
NM_001122630.2(CDKN1C):c.98G>T (p.Arg33Leu) rs1477382841
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) rs371775975
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) rs925398929
NM_022455.4(NSD1):c.1666A>G (p.Asn556Asp) rs143571876
NM_022455.4(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.4(NSD1):c.1879G>A (p.Gly627Ser) rs1449506408
NM_022455.4(NSD1):c.1906A>G (p.Ile636Val) rs1410310481
NM_022455.4(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys) rs766184697
NM_022455.4(NSD1):c.2153G>A (p.Ser718Asn) rs781142476
NM_022455.4(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
NM_022455.4(NSD1):c.2350C>G (p.Gln784Glu) rs374740802
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) rs1581089074
NM_022455.4(NSD1):c.3114G>T (p.Met1038Ile) rs1581324163
NM_022455.4(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180
NM_022455.4(NSD1):c.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.4(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231
NM_022455.4(NSD1):c.3512G>A (p.Arg1171His) rs111638717
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3682G>C (p.Asp1228His) rs1161564727
NM_022455.4(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409
NM_022455.4(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
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) rs1435199225
NM_022455.4(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900
NM_022455.4(NSD1):c.436A>G (p.Ile146Val) rs745885259
NM_022455.4(NSD1):c.4428T>A (p.His1476Gln) rs1581430053
NM_022455.4(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.4(NSD1):c.4583C>T (p.Ser1528Phe) rs1581433960
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.4858G>A (p.Val1620Ile) rs774169673
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 rs1581468671
NM_022455.4(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.4(NSD1):c.5273A>G (p.Glu1758Gly) rs1581491894
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.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.4(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
NM_022455.4(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.4(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.4(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.4(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.4(NSD1):c.6524G>A (p.Cys2175Tyr) rs1581562963
NM_022455.4(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.4(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998
NM_022455.4(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598
NM_022455.4(NSD1):c.6887T>C (p.Val2296Ala) rs754309202
NM_022455.4(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
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.7500G>C (p.Met2500Ile) rs770120153
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) rs771587260
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
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu)
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg)
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter)
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
NM_022455.5(NSD1):c.2215_2217del (p.Val739del)
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr)
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg)
NM_022455.5(NSD1):c.2776C>T (p.Arg926Trp)
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln)
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
NM_022455.5(NSD1):c.3698G>A (p.Arg1233Gln)
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile)
NM_022455.5(NSD1):c.4193-10T>C
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=)
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=)
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp)
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr)
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr)
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys)
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His)
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser)
NM_022455.5(NSD1):c.6436T>C (p.Cys2146Arg)
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del)
NM_022455.5(NSD1):c.6667C>T (p.Pro2223Ser)
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro)
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala)
NM_022455.5(NSD1):c.7196A>C (p.Lys2399Thr)
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys)
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val)

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