ClinVar Miner

List of variants in gene NSD1 studied for Beckwith-Wiedemann syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 283
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HGVS dbSNP
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NM_022455.4(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
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.1252T>C (p.Leu418=) rs201329783
NM_022455.4(NSD1):c.1290G>A (p.Gln430=) rs535674820
NM_022455.4(NSD1):c.1317C>T (p.Asn439=) rs150421873
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.1492C>T (p.Arg498Ter) rs1581315609
NM_022455.4(NSD1):c.1495G>A (p.Ala499Thr) rs587784075
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.1574G>A (p.Arg525Gln) rs138405802
NM_022455.4(NSD1):c.1605A>G (p.Leu535=) rs746977419
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) rs925398929
NM_022455.4(NSD1):c.1666A>G (p.Asn556Asp) rs143571876
NM_022455.4(NSD1):c.1690G>T (p.Ala564Ser) rs116520623
NM_022455.4(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.4(NSD1):c.1760del (p.Gly587fs) rs1581316964
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) 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.2049_2053del (p.Ile684fs) rs587784080
NM_022455.4(NSD1):c.2071G>A (p.Ala691Thr) rs28932177
NM_022455.4(NSD1):c.2079C>G (p.Asn693Lys) rs766184697
NM_022455.4(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.4(NSD1):c.2148T>G (p.Thr716=) rs780294858
NM_022455.4(NSD1):c.2153G>A (p.Ser718Asn) rs781142476
NM_022455.4(NSD1):c.2169C>T (p.Thr723=) rs11948062
NM_022455.4(NSD1):c.2170G>A (p.Glu724Lys) rs771456995
NM_022455.4(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
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.2334dup (p.His779fs) rs1554189512
NM_022455.4(NSD1):c.2339C>T (p.Ser780Leu) rs201327209
NM_022455.4(NSD1):c.2350C>G (p.Gln784Glu) 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.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.4(NSD1):c.2835T>C (p.Ser945=) rs145987330
NM_022455.4(NSD1):c.29G>A (p.Arg10Lys) rs1581089074
NM_022455.4(NSD1):c.3000C>T (p.Ser1000=) rs150854966
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) rs1581324163
NM_022455.4(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006
NM_022455.4(NSD1):c.3214C>T (p.Arg1072Ter) rs587784098
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) rs151165525
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.3389A>G (p.Glu1130Gly) rs113856002
NM_022455.4(NSD1):c.3393C>T (p.Asn1131=) rs150296373
NM_022455.4(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983
NM_022455.4(NSD1):c.339C>T (p.Cys113=) rs77093936
NM_022455.4(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.4(NSD1):c.3500G>A (p.Arg1167His) rs763399938
NM_022455.4(NSD1):c.3512G>A (p.Arg1171His) rs111638717
NM_022455.4(NSD1):c.3513dup (p.Lys1172Ter) rs1562213291
NM_022455.4(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.4(NSD1):c.3549dup (p.Glu1184Ter) rs797045813
NM_022455.4(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.4(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
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.3722G>C (p.Ser1241Thr) rs138641637
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.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.4(NSD1):c.3868del (p.Gln1290fs) rs1554195302
NM_022455.4(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.4(NSD1):c.3964C>T (p.Arg1322Ter) rs587784107
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.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.4(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
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.4378+3_4378+6del rs1562251194
NM_022455.4(NSD1):c.4379-2A>G rs1581429903
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) rs1581430053
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) rs1581433960
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.4858G>A (p.Val1620Ile) rs774169673
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.5007C>T (p.His1669=) rs146414176
NM_022455.4(NSD1):c.5020del (p.Cys1674fs) rs1581468355
NM_022455.4(NSD1):c.5146+1G>A rs587784139
NM_022455.4(NSD1):c.5146+2dup rs1581468671
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) rs1581491894
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.5410T>A (p.Tyr1804Asn) rs1581497686
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.5510-10G>A rs767198805
NM_022455.4(NSD1):c.5581C>T (p.Arg1861Ter) rs886041218
NM_022455.4(NSD1):c.5712C>T (p.Pro1904=) rs756321444
NM_022455.4(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
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) rs1581527915
NM_022455.4(NSD1):c.5854C>T (p.Arg1952Trp) rs886041219
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.5950C>T (p.Arg1984Ter) rs797045057
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.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.4(NSD1):c.6089A>C (p.Gln2030Pro) rs1554204952
NM_022455.4(NSD1):c.6152-5T>G rs755758018
NM_022455.4(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
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.6366T>G (p.Phe2122Leu) rs1562305653
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.6413G>A (p.Cys2138Tyr) rs587784195
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.6429C>T (p.His2143=) rs121908068
NM_022455.4(NSD1):c.6437G>A (p.Cys2146Tyr) rs1554206834
NM_022455.4(NSD1):c.6437dup (p.Cys2146fs) rs1554206836
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.6463+8C>A rs147592452
NM_022455.4(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.4(NSD1):c.6487C>T (p.Gln2163Ter) rs1060501494
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.6605G>A (p.Cys2202Tyr) rs121908071
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.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.6991G>A (p.Asp2331Asn) rs772981865
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.7145C>T (p.Thr2382Ile) rs148027433
NM_022455.4(NSD1):c.7152G>C (p.Leu2384=) rs758847471
NM_022455.4(NSD1):c.7180A>G (p.Ile2394Val) rs1554207690
NM_022455.4(NSD1):c.7275A>G (p.Leu2425=) rs139879749
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.7500G>C (p.Met2500Ile) rs770120153
NM_022455.4(NSD1):c.7531G>C (p.Asp2511His) rs575229932
NM_022455.4(NSD1):c.7575C>T (p.Asp2525=) rs148891711
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) rs749416834
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) 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_022455.4(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022455.4(NSD1):c.983G>A (p.Trp328Ter) rs1554185405
NM_022455.5(NSD1):c.1253T>A (p.Leu418Ter)
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.1609_1610delinsC (p.Phe537fs)
NM_022455.5(NSD1):c.1894C>T (p.Arg632Ter)
NM_022455.5(NSD1):c.2032A>G (p.Met678Val)
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly)
NM_022455.5(NSD1):c.2097dup (p.Gln700fs)
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.3781dup (p.Glu1261fs)
NM_022455.5(NSD1):c.4124del (p.Val1375fs)
NM_022455.5(NSD1):c.4193-10T>C
NM_022455.5(NSD1):c.4216del (p.Arg1406fs)
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs)
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.4702del (p.Leu1568fs)
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser)
NM_022455.5(NSD1):c.4766-1G>A
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn)
NM_022455.5(NSD1):c.4847A>G (p.His1616Arg)
NM_022455.5(NSD1):c.5121T>C (p.Val1707=)
NM_022455.5(NSD1):c.5198G>T (p.Cys1733Phe)
NM_022455.5(NSD1):c.5243_5244del (p.Asp1747_Cys1748insTer)
NM_022455.5(NSD1):c.5462G>A (p.Ser1821Asn)
NM_022455.5(NSD1):c.5509+2T>G
NM_022455.5(NSD1):c.557A>T (p.Glu186Val)
NM_022455.5(NSD1):c.5684G>A (p.Cys1895Tyr)
NM_022455.5(NSD1):c.5685C>G (p.Cys1895Trp)
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.6208T>G (p.Cys2070Gly)
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.6488_6498del (p.Gln2163fs)
NM_022455.5(NSD1):c.6490T>C (p.Cys2164Arg)
NM_022455.5(NSD1):c.6533G>T (p.Cys2178Phe)
NM_022455.5(NSD1):c.6543del (p.Cys2183fs)
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)
NM_172349.2(NSD1):c.1443_1444TC[3] (p.Pro484fs) rs1581319715
NM_172349.2(NSD1):c.1579_1582del (p.Glu527fs) rs587784086
NM_172349.2(NSD1):c.2572_2573CT[2] (p.Ser859fs) rs587784101
NM_172349.2(NSD1):c.2850_2851AG[1] (p.Glu951fs) rs587784104
NM_172349.2(NSD1):c.702delinsGA (p.Asp235fs) rs1562205351

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