ClinVar Miner

List of variants in gene NSD1 reported as pathogenic for chromosomal disorder

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 318
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys) rs587784154 0.00001
NC_000005.10:g.(?_177131798)_(177300213_)?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000005.9:g.(?_176638041)_(176722460_?)del
NC_000005.9:g.(?_176720813)_(176722460_?)del
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
NM_022455.5(NSD1):c.1014del (p.Cys339fs)
NM_022455.5(NSD1):c.1064-2A>G rs2149836062
NM_022455.5(NSD1):c.1077del (p.Arg359fs) rs587784068
NM_022455.5(NSD1):c.1163G>T (p.Gly388Val) rs2149836269
NM_022455.5(NSD1):c.1236+2T>C
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter) rs1763175962
NM_022455.5(NSD1):c.1253dup (p.Leu418fs)
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter) rs587784071
NM_022455.5(NSD1):c.1264dup (p.Glu422fs) rs797045804
NM_022455.5(NSD1):c.1299del (p.Lys435fs)
NM_022455.5(NSD1):c.1310C>G (p.Ser437Ter) rs121908067
NM_022455.5(NSD1):c.1318C>T (p.Arg440Ter) rs1270264665
NM_022455.5(NSD1):c.1456del (p.Ser486fs) rs587784073
NM_022455.5(NSD1):c.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.5(NSD1):c.1549C>T (p.Gln517Ter) rs1131692328
NM_022455.5(NSD1):c.1633_1634dup (p.Gln546fs)
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1727dup (p.Asn576fs) rs1299932363
NM_022455.5(NSD1):c.1743del (p.Glu581fs) rs794729232
NM_022455.5(NSD1):c.1760del (p.Gly587fs) rs1581316964
NM_022455.5(NSD1):c.1802dup (p.Cys602fs) rs797045805
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076
NM_022455.5(NSD1):c.1828C>T (p.Gln610Ter) rs1763225156
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter) rs587784077
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_022455.5(NSD1):c.1873G>T (p.Gly625Ter) rs1286331975
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter) rs1481136060
NM_022455.5(NSD1):c.1981del (p.Ser661fs)
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs) rs587784078
NM_022455.5(NSD1):c.2048del (p.Lys683fs) rs587784079
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs) rs587784080
NM_022455.5(NSD1):c.2053_2057del (p.Lys685fs) rs2149844461
NM_022455.5(NSD1):c.2058T>A (p.Tyr686Ter) rs786205576
NM_022455.5(NSD1):c.2064del (p.Arg688fs) rs587784081
NM_022455.5(NSD1):c.2097dup (p.Gln700fs) rs1763249718
NM_022455.5(NSD1):c.2124_2127del (p.His708fs) rs587784082
NM_022455.5(NSD1):c.2137dup (p.Met713fs) rs1581318949
NM_022455.5(NSD1):c.2163_2181del (p.Gly722fs) rs2149844773
NM_022455.5(NSD1):c.2167dup (p.Thr723fs) rs797045807
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs) rs797045808
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter) rs587784084
NM_022455.5(NSD1):c.2289_2317dup (p.Ala773delinsValArgThrArgTer) rs1581319867
NM_022455.5(NSD1):c.2295del (p.Ser766fs) rs587784085
NM_022455.5(NSD1):c.2314del (p.Ala772fs) rs1554189482
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2323C>T (p.Gln775Ter)
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter) rs201327209
NM_022455.5(NSD1):c.2362C>T (p.Arg788Ter) rs1057520339
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.2425dup (p.Glu809fs)
NM_022455.5(NSD1):c.2493dup (p.Lys832fs)
NM_022455.5(NSD1):c.2520_2524del (p.Asn841fs)
NM_022455.5(NSD1):c.2605dup (p.Tyr869fs) rs2149845831
NM_022455.5(NSD1):c.2613del (p.Ser871_Leu872insTer) rs1581321541
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2639del (p.Gly880fs) rs587784087
NM_022455.5(NSD1):c.2645C>G (p.Ser882Ter) rs2149845949
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter) rs587784088
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs) rs1131691754
NM_022455.5(NSD1):c.2674del (p.Ser892fs) rs2149846018
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter) rs2149846283
NM_022455.5(NSD1):c.2827del (p.Asp943fs) rs587784089
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter) rs797045809
NM_022455.5(NSD1):c.2948dup (p.Gly983_Asp984insTer) rs2149846650
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs) rs587784092
NM_022455.5(NSD1):c.2956del (p.Ala986fs) rs587784093
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter) rs2149846817
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs) rs1554189941
NM_022455.5(NSD1):c.3017del (p.Pro1006fs) rs2149846924
NM_022455.5(NSD1):c.3031del (p.Ser1011fs) rs2149846959
NM_022455.5(NSD1):c.3038C>G (p.Ser1013Ter) rs1006906224
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs) rs587784094
NM_022455.5(NSD1):c.3063_3064del (p.Cys1021fs)
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter) rs587784095
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter) rs587784096
NM_022455.5(NSD1):c.3109C>T (p.Gln1037Ter) rs2149847258
NM_022455.5(NSD1):c.3145_3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs) rs797045810
NM_022455.5(NSD1):c.3172C>T (p.Gln1058Ter) rs1763344725
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs) rs587784097
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
NM_022455.5(NSD1):c.3254del (p.Pro1085fs) rs2149847798
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs) rs797045811
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs) rs1763353656
NM_022455.5(NSD1):c.3293del (p.Thr1098fs) rs587784099
NM_022455.5(NSD1):c.3295del (p.Ser1099fs) rs587784100
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs) rs797045812
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs) rs587784101
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.5(NSD1):c.3536del (p.Glu1179fs) rs1562213381
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer) rs878855075
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs) rs587784103
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs) rs797045814
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3687del (p.Ala1230fs) rs2149849204
NM_022455.5(NSD1):c.3701T>G (p.Leu1234Ter) rs2149849285
NM_022455.5(NSD1):c.3781dup (p.Glu1261fs) rs1763397145
NM_022455.5(NSD1):c.3796+1G>A
NM_022455.5(NSD1):c.3796+1_3796+6del
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
NM_022455.5(NSD1):c.3922-1G>C rs1581407682
NM_022455.5(NSD1):c.3922-2_3925delinsG rs1554195815
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs) rs797045815
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter) rs121908070
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.3985C>T (p.Gln1329Ter) rs2149887293
NM_022455.5(NSD1):c.4020del (p.Glu1341fs) rs797045816
NM_022455.5(NSD1):c.4055dup (p.Leu1352fs) rs1765615038
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter) rs587784109
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter) rs587784110
NM_022455.5(NSD1):c.4096_4097dup (p.Glu1367fs)
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter) rs1581408152
NM_022455.5(NSD1):c.4124del (p.Val1375fs) rs1765618844
NM_022455.5(NSD1):c.4192+2T>G rs587784111
NM_022455.5(NSD1):c.4196del (p.Asn1399fs)
NM_022455.5(NSD1):c.4216del (p.Arg1406fs) rs1765712615
NM_022455.5(NSD1):c.4217_4220del (p.Arg1406fs) rs794727930
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs) rs2149889364
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs) rs797045817
NM_022455.5(NSD1):c.4301del (p.Lys1434fs) rs587784112
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs) rs587784112
NM_022455.5(NSD1):c.4302+1G>A rs1562246533
NM_022455.5(NSD1):c.4303-3T>G
NM_022455.5(NSD1):c.4361C>G (p.Ser1454Ter) rs2149894799
NM_022455.5(NSD1):c.4365del (p.Asp1456fs)
NM_022455.5(NSD1):c.4376del (p.Gly1459fs) rs587784114
NM_022455.5(NSD1):c.4378+1G>A rs587784115
NM_022455.5(NSD1):c.4378+1G>T rs587784115
NM_022455.5(NSD1):c.4378+3_4378+6del rs1562251194
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter) rs570278338
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter) rs587784117
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter) rs587784118
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs) rs797045819
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter) rs587784119
NM_022455.5(NSD1):c.4498-3A>G rs587784120
NM_022455.5(NSD1):c.4514dup (p.His1505fs) rs2149899468
NM_022455.5(NSD1):c.4529del (p.Ser1510fs) rs587784121
NM_022455.5(NSD1):c.4569del (p.Met1525fs) rs2149899647
NM_022455.5(NSD1):c.4655T>A (p.Leu1552Ter) rs2149904394
NM_022455.5(NSD1):c.4672dup (p.Cys1558fs) rs2149904428
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter) rs587784122
NM_022455.5(NSD1):c.4702del (p.Leu1568fs) rs1755987983
NM_022455.5(NSD1):c.4705del (p.Glu1569fs) rs587784123
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs) rs587784124
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs) rs797045820
NM_022455.5(NSD1):c.4745del (p.Ile1582fs) rs587784125
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter) rs587784126
NM_022455.5(NSD1):c.4766-2A>G rs1581457332
NM_022455.5(NSD1):c.4771C>T (p.His1591Tyr) rs1554199368
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg) rs1756522180
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser) rs587784128
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly) rs587784128
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs) rs797045821
NM_022455.5(NSD1):c.4883del (p.Met1628fs) rs2149912535
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe) rs587784129
NM_022455.5(NSD1):c.4919G>A (p.Cys1640Tyr)
NM_022455.5(NSD1):c.4928G>C (p.Cys1643Ser)
NM_022455.5(NSD1):c.4932dup (p.Ala1645fs) rs1562265336
NM_022455.5(NSD1):c.4966+1G>A rs587784131
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys) rs587784132
NM_022455.5(NSD1):c.4967-2A>T rs587784133
NM_022455.5(NSD1):c.4977dup (p.Arg1660fs) rs1562269320
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys) rs587784134
NM_022455.5(NSD1):c.4994C>T (p.Pro1665Leu) rs2149917734
NM_022455.5(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter) rs587784137
NM_022455.5(NSD1):c.5115_5116insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCATGAGCATGTT (p.Asn1706delinsPhePhePhePhePhePheXaaXaaXaaXaaLeuThrSerTer)
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter) rs2149918110
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter) rs587784138
NM_022455.5(NSD1):c.5143G>T (p.Glu1715Ter)
NM_022455.5(NSD1):c.5146+1G>A rs587784139
NM_022455.5(NSD1):c.5177C>G (p.Pro1726Arg) rs1554201713
NM_022455.5(NSD1):c.5190T>G (p.His1730Gln) rs2149931088
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe) rs587784140
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer) rs1757602433
NM_022455.5(NSD1):c.5258dup (p.Pro1754fs)
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs) rs398124379
NM_022455.5(NSD1):c.5296C>T (p.Arg1766Ter) rs1581491984
NM_022455.5(NSD1):c.5303+1G>A rs587784141
NM_022455.5(NSD1):c.5303+1G>C rs587784141
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter) rs587784151
NM_022455.5(NSD1):c.5580_5587del (p.Asp1860fs) rs2127241978
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs) rs587784152
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr) rs1758796866
NM_022455.5(NSD1):c.5712del (p.Cys1905fs) rs587784153
NM_022455.5(NSD1):c.5724del (p.Ser1909fs) rs1562292879
NM_022455.5(NSD1):c.5738A>G (p.Asn1913Ser) rs2127257170
NM_022455.5(NSD1):c.5753_5754del (p.Leu1917_Tyr1918insTer) rs2127257218
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs) rs797045824
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter) rs587784157
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter) rs587784158
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter) rs1581527842
NM_022455.5(NSD1):c.5824_5828del (p.Pro1942fs) rs2127257484
NM_022455.5(NSD1):c.5849T>G (p.Leu1950Ter) rs1581527915
NM_022455.5(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
NM_022455.5(NSD1):c.5858G>C (p.Gly1953Ala) rs2127257578
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys) rs587784160
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr) rs587784162
NM_022455.5(NSD1):c.5892+1G>T rs886039579
NM_022455.5(NSD1):c.5893-2A>G rs587784163
NM_022455.5(NSD1):c.5903del (p.Val1968fs) rs587784164
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs) rs587784165
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter) rs587784168
NM_022455.5(NSD1):c.5950C>T (p.Arg1984Ter) rs797045057
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln) rs587784169
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter) rs587784170
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His) rs587784171
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys) rs797045825
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.5997_5998insT (p.Thr2000fs) rs1562295135
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter) rs587784173
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln) rs587784174
NM_022455.5(NSD1):c.6020T>C (p.Ile2007Thr) rs1554204921
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.6030del (p.Gly2013fs)
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp) rs587784176
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser) rs587784178
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter) rs587784179
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs) rs1581535570
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs) rs797045826
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs) rs797045827
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6125T>G (p.Leu2042Arg) rs2127263172
NM_022455.5(NSD1):c.6151+1G>A rs1562296511
NM_022455.5(NSD1):c.6152-5T>G rs755758018
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter) rs587784183
NM_022455.5(NSD1):c.6165del (p.Phe2056fs) rs587784184
NM_022455.5(NSD1):c.6206_6209del (p.Val2069fs) rs1759550773
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs) rs797045828
NM_022455.5(NSD1):c.6258+1G>A rs587784185
NM_022455.5(NSD1):c.6258+1G>T rs587784185
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs) rs797045829
NM_022455.5(NSD1):c.6291_6294del (p.Lys2097fs) rs2127276046
NM_022455.5(NSD1):c.6291del (p.Lys2098fs) rs587784186
NM_022455.5(NSD1):c.6294del (p.Lys2098fs) rs2127276076
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter) rs587784187
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs) rs797045830
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter) rs587784188
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs) rs587784189
NM_022455.5(NSD1):c.6317del (p.Lys2106fs) rs1562305497
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs) rs797045831
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter) rs587784190
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly) rs587784191
NM_022455.5(NSD1):c.6358G>T (p.Glu2120Ter) rs1581558015
NM_022455.5(NSD1):c.6366del (p.Phe2122fs) rs587784192
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val) rs587784193
NM_022455.5(NSD1):c.6391dup (p.Val2131fs) rs2127276417
NM_022455.5(NSD1):c.6412T>A (p.Cys2138Ser)
NM_022455.5(NSD1):c.6421del (p.Val2141fs) rs587784197
NM_022455.5(NSD1):c.6426C>G (p.Tyr2142Ter) rs1060501493
NM_022455.5(NSD1):c.6429C>G (p.His2143Gln) rs121908068
NM_022455.5(NSD1):c.6431del (p.Ala2144fs) rs587784198
NM_022455.5(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.5(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
NM_022455.5(NSD1):c.6450dup (p.Lys2151fs) rs864309639
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter) rs587784199
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln) rs587784200
NM_022455.5(NSD1):c.6455dup (p.Pro2153fs) rs2127276655
NM_022455.5(NSD1):c.6459_6463+5del rs797045832
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter) rs587784201
NM_022455.5(NSD1):c.6475T>A (p.Cys2159Ser) rs1760056582
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr) rs587784202
NM_022455.5(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
NM_022455.5(NSD1):c.6488_6498del (p.Gln2163fs) rs1760057409
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg) rs1760058101
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del) rs587784206
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs) rs879253860
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs) rs587784207
NM_022455.5(NSD1):c.6543del (p.Cys2183fs) rs1760062897
NM_022455.5(NSD1):c.6547T>G (p.Cys2183Gly) rs1554207287
NM_022455.5(NSD1):c.6548G>C (p.Cys2183Ser) rs121908069
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter) rs1581563059
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg) rs587784208
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter) rs587784209
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser) rs587784210
NM_022455.5(NSD1):c.6605G>A (p.Cys2202Tyr) rs121908071
NM_022455.5(NSD1):c.6634C>T (p.Pro2212Ser)
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp) rs1760069281
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His) rs587784214
NM_022455.5(NSD1):c.6850G>T (p.Glu2284Ter)
NM_022455.5(NSD1):c.7405del (p.Ala2469fs) rs2127282737
NM_022455.5(NSD1):c.7603del (p.Gln2535fs) rs2127283690
NM_022455.5(NSD1):c.7690G>T (p.Glu2564Ter) rs749416834
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter) rs797045834
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs) rs587784219
NM_022455.5(NSD1):c.7966C>T (p.Gln2656Ter) rs797045058
NM_022455.5(NSD1):c.7968_7971del (p.Gln2656fs) rs1562312238
NM_022455.5(NSD1):c.7988G>A (p.Trp2663Ter)
NM_022455.5(NSD1):c.8036del (p.Pro2679fs) rs587784220
NM_022455.5(NSD1):c.8043del (p.Asn2682fs) rs587784221
NM_022455.5(NSD1):c.8045del (p.Asn2682fs)
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.5(NSD1):c.896del (p.Ser299fs) rs1562099585
NM_022455.5(NSD1):c.983G>A (p.Trp328Ter) rs1554185405

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