ClinVar Miner

List of variants in gene NSD1 reported as uncertain significance for Sotos syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_022455.5(NSD1):c.7352G>A (p.Arg2451Lys) rs200115665 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_022455.5(NSD1):c.1558G>A (p.Ala520Thr) rs559617787 0.00017
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00015
NM_022455.5(NSD1):c.816C>A (p.Asn272Lys) rs144524958 0.00014
NM_022455.5(NSD1):c.1478C>T (p.Pro493Leu) rs140583358 0.00011
NM_022455.5(NSD1):c.3500G>A (p.Arg1167His) rs763399938 0.00010
NM_022455.5(NSD1):c.4605C>T (p.Arg1535=) rs140229717 0.00010
NM_022455.5(NSD1):c.4966+6G>A rs373129093 0.00010
NM_022455.5(NSD1):c.4187C>T (p.Thr1396Met) rs747298351 0.00009
NM_022455.5(NSD1):c.6259-8A>T rs370529039 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_022455.5(NSD1):c.142A>G (p.Met48Val) rs200735877 0.00007
NM_022455.5(NSD1):c.113A>G (p.Asn38Ser) rs368524494 0.00006
NM_022455.5(NSD1):c.*1014dup rs886060448 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.3068G>A (p.Arg1023Gln) rs756022347 0.00005
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00004
NM_022455.5(NSD1):c.3121A>G (p.Asn1041Asp) rs770541943 0.00004
NM_022455.5(NSD1):c.3178C>T (p.Pro1060Ser) rs188847458 0.00004
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022455.5(NSD1):c.5635A>G (p.Ile1879Val) rs746599803 0.00004
NM_022455.5(NSD1):c.7049T>C (p.Leu2350Pro) rs750785772 0.00004
NM_022455.5(NSD1):c.*4596del rs886060459 0.00003
NM_022455.5(NSD1):c.1224A>G (p.Gly408=) rs587784069 0.00003
NM_022455.5(NSD1):c.2032A>G (p.Met678Val) rs773904155 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3649C>T (p.Pro1217Ser) rs372004424 0.00003
NM_022455.5(NSD1):c.4328A>G (p.Asn1443Ser) rs141911573 0.00003
NM_022455.5(NSD1):c.4332C>T (p.Gly1444=) rs147235302 0.00003
NM_022455.5(NSD1):c.4858G>A (p.Val1620Ile) rs774169673 0.00003
NM_022455.5(NSD1):c.6845C>G (p.Pro2282Arg) rs539453877 0.00003
NM_022455.5(NSD1):c.7500G>C (p.Met2500Ile) rs770120153 0.00003
NM_022455.5(NSD1):c.7531G>C (p.Asp2511His) rs575229932 0.00003
NM_022455.5(NSD1):c.1801A>G (p.Lys601Glu) rs780179136 0.00002
NM_022455.5(NSD1):c.209T>G (p.Ile70Ser) rs760029045 0.00002
NM_022455.5(NSD1):c.2174C>T (p.Thr725Met) rs774810620 0.00002
NM_022455.5(NSD1):c.2297C>T (p.Ser766Leu) rs773591859 0.00002
NM_022455.5(NSD1):c.241A>G (p.Met81Val) rs763781326 0.00002
NM_022455.5(NSD1):c.3599G>A (p.Arg1200Gln) rs753389957 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6848T>C (p.Leu2283Pro) rs776592297 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_022455.5(NSD1):c.7696A>G (p.Thr2566Ala) rs778841211 0.00002
NM_022455.5(NSD1):c.7923T>C (p.Ala2641=) rs147033795 0.00002
NM_022455.5(NSD1):c.1063+10dup rs762416925 0.00001
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_022455.5(NSD1):c.108A>G (p.Gln36=) rs549091873 0.00001
NM_022455.5(NSD1):c.1237-10T>C rs587784070 0.00001
NM_022455.5(NSD1):c.1471G>A (p.Glu491Lys) rs587784074 0.00001
NM_022455.5(NSD1):c.1573C>T (p.Arg525Trp) rs1215568879 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.1646A>C (p.Asn549Thr) rs756449994 0.00001
NM_022455.5(NSD1):c.1882G>A (p.Asp628Asn) rs1763231304 0.00001
NM_022455.5(NSD1):c.1976A>G (p.Asp659Gly) rs754514832 0.00001
NM_022455.5(NSD1):c.19C>A (p.Leu7Ile) rs368345846 0.00001
NM_022455.5(NSD1):c.2079C>G (p.Asn693Lys) rs766184697 0.00001
NM_022455.5(NSD1):c.2153G>A (p.Ser718Asn) rs781142476 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022455.5(NSD1):c.2685T>G (p.Ser895Arg) rs1442977122 0.00001
NM_022455.5(NSD1):c.2809C>T (p.Arg937Trp) rs780991637 0.00001
NM_022455.5(NSD1):c.2925C>T (p.Ser975=) rs587784090 0.00001
NM_022455.5(NSD1):c.3352G>A (p.Asp1118Asn) rs1348023231 0.00001
NM_022455.5(NSD1):c.3404C>T (p.Pro1135Leu) rs1021852466 0.00001
NM_022455.5(NSD1):c.3512G>A (p.Arg1171His) rs111638717 0.00001
NM_022455.5(NSD1):c.3558C>G (p.Ala1186=) rs398124377 0.00001
NM_022455.5(NSD1):c.3770C>T (p.Thr1257Ile) rs1249385869 0.00001
NM_022455.5(NSD1):c.3959G>A (p.Arg1320Gln) rs1388537733 0.00001
NM_022455.5(NSD1):c.4150C>T (p.Arg1384Trp) rs1765619618 0.00001
NM_022455.5(NSD1):c.4380C>T (p.Gly1460=) rs1251583221 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022455.5(NSD1):c.4436C>T (p.Ala1479Val) rs1766327804 0.00001
NM_022455.5(NSD1):c.4487C>T (p.Pro1496Leu) rs1766333203 0.00001
NM_022455.5(NSD1):c.4966+15T>C rs587784130 0.00001
NM_022455.5(NSD1):c.5204A>G (p.Asn1735Ser) rs746925986 0.00001
NM_022455.5(NSD1):c.5843G>A (p.Arg1948His) rs746726463 0.00001
NM_022455.5(NSD1):c.5892+6A>G rs1231700818 0.00001
NM_022455.5(NSD1):c.6320G>A (p.Arg2107His) rs1401142770 0.00001
NM_022455.5(NSD1):c.653G>T (p.Arg218Ile) rs1240149522 0.00001
NM_022455.5(NSD1):c.6673C>G (p.Pro2225Ala) rs1418961998 0.00001
NM_022455.5(NSD1):c.6680C>T (p.Pro2227Leu) rs748597598 0.00001
NM_022455.5(NSD1):c.670T>C (p.Ser224Pro) rs770174512 0.00001
NM_022455.5(NSD1):c.7076C>T (p.Pro2359Leu) rs769699822 0.00001
NM_022455.5(NSD1):c.7331A>G (p.Gln2444Arg) rs921266576 0.00001
NM_022455.5(NSD1):c.7379A>G (p.Asp2460Gly) rs1406542990 0.00001
NM_022455.5(NSD1):c.7391G>A (p.Arg2464His) rs587784216 0.00001
NM_022455.5(NSD1):c.7618T>C (p.Ser2540Pro) rs750441093 0.00001
NM_022455.5(NSD1):c.7678T>C (p.Ser2560Pro) rs1388409083 0.00001
NM_022455.5(NSD1):c.7739C>T (p.Ala2580Val) rs755285941 0.00001
NM_022455.5(NSD1):c.7897C>T (p.Arg2633Trp) rs758475990 0.00001
NM_022455.5(NSD1):c.*216CCAA[1] rs886060444
NM_022455.5(NSD1):c.*4609_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611del rs60995782
NM_022455.5(NSD1):c.*4610_*4611dup rs60995782
NM_022455.5(NSD1):c.*4611dup rs60995782
NM_022455.5(NSD1):c.*4612del rs886060465
NM_022455.5(NSD1):c.*565del rs886060446
NM_022455.5(NSD1):c.*839dup rs886060447
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) rs1761727286
NM_022455.5(NSD1):c.1078C>G (p.Pro360Ala)
NM_022455.5(NSD1):c.1105T>C (p.Phe369Leu) rs1762710997
NM_022455.5(NSD1):c.1129T>C (p.Trp377Arg) rs1762711811
NM_022455.5(NSD1):c.1159G>C (p.Glu387Gln) rs1374361789
NM_022455.5(NSD1):c.1171C>G (p.Gln391Glu)
NM_022455.5(NSD1):c.1249A>T (p.Ile417Phe)
NM_022455.5(NSD1):c.1286A>G (p.Glu429Gly)
NM_022455.5(NSD1):c.1288C>G (p.Gln430Glu) rs367809750
NM_022455.5(NSD1):c.1291T>C (p.Tyr431His) rs1763178149
NM_022455.5(NSD1):c.1325G>A (p.Cys442Tyr) rs1763180633
NM_022455.5(NSD1):c.1325G>C (p.Cys442Ser)
NM_022455.5(NSD1):c.1333G>C (p.Gly445Arg) rs757392008
NM_022455.5(NSD1):c.1363A>G (p.Met455Val) rs546116718
NM_022455.5(NSD1):c.1367C>T (p.Pro456Leu) rs775730406
NM_022455.5(NSD1):c.1382C>T (p.Thr461Ile) rs776330654
NM_022455.5(NSD1):c.1414C>T (p.Leu472Phe) rs371775975
NM_022455.5(NSD1):c.1428G>A (p.Leu476=) rs587784072
NM_022455.5(NSD1):c.145C>T (p.Gln49Ter) rs1336273625
NM_022455.5(NSD1):c.1487A>G (p.Lys496Arg)
NM_022455.5(NSD1):c.1606A>C (p.Asn536His) rs1554188985
NM_022455.5(NSD1):c.1607A>G (p.Asn536Ser)
NM_022455.5(NSD1):c.1664C>T (p.Ala555Val) rs925398929
NM_022455.5(NSD1):c.1687A>C (p.Thr563Pro) rs1763212012
NM_022455.5(NSD1):c.1699A>G (p.Ser567Gly)
NM_022455.5(NSD1):c.1729A>T (p.Thr577Ser) rs370153971
NM_022455.5(NSD1):c.1744T>G (p.Phe582Val)
NM_022455.5(NSD1):c.1760G>C (p.Gly587Ala)
NM_022455.5(NSD1):c.1786G>C (p.Gly596Arg)
NM_022455.5(NSD1):c.1814A>G (p.Glu605Gly)
NM_022455.5(NSD1):c.1820A>G (p.Asn607Ser) rs1265667423
NM_022455.5(NSD1):c.1843T>G (p.Cys615Gly)
NM_022455.5(NSD1):c.1871T>C (p.Ile624Thr)
NM_022455.5(NSD1):c.1879G>A (p.Gly627Ser) rs1449506408
NM_022455.5(NSD1):c.1906A>G (p.Ile636Val) rs1410310481
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) rs1763234813
NM_022455.5(NSD1):c.199T>A (p.Ser67Thr)
NM_022455.5(NSD1):c.2008G>A (p.Asp670Asn) rs1554189230
NM_022455.5(NSD1):c.2025G>A (p.Met675Ile)
NM_022455.5(NSD1):c.2051T>G (p.Ile684Arg) rs1281302772
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2083A>G (p.Arg695Gly) rs1581318727
NM_022455.5(NSD1):c.2215_2217del (p.Val739del) rs1763260903
NM_022455.5(NSD1):c.2231C>T (p.Ser744Leu) rs1581319591
NM_022455.5(NSD1):c.2240C>T (p.Thr747Ile)
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) rs139085502
NM_022455.5(NSD1):c.2279G>C (p.Ser760Thr) rs1763266375
NM_022455.5(NSD1):c.2290G>C (p.Glu764Gln)
NM_022455.5(NSD1):c.2300TAA[1] (p.Ile768del)
NM_022455.5(NSD1):c.2308G>A (p.Gly770Ser)
NM_022455.5(NSD1):c.2352_2353delinsAA (p.Pro785Thr) rs1763273634
NM_022455.5(NSD1):c.2362C>G (p.Arg788Gly)
NM_022455.5(NSD1):c.2416A>G (p.Ile806Val) rs1562208925
NM_022455.5(NSD1):c.2428T>C (p.Cys810Arg)
NM_022455.5(NSD1):c.2429G>T (p.Cys810Phe) rs1763281290
NM_022455.5(NSD1):c.243G>C (p.Met81Ile) rs886042530
NM_022455.5(NSD1):c.2564C>T (p.Ala855Val) rs2149845759
NM_022455.5(NSD1):c.2742G>T (p.Leu914Phe)
NM_022455.5(NSD1):c.2800G>A (p.Val934Ile)
NM_022455.5(NSD1):c.2834C>A (p.Ser945Tyr) rs2095343853
NM_022455.5(NSD1):c.2912G>A (p.Gly971Asp) rs371226812
NM_022455.5(NSD1):c.2944G>T (p.Gly982Trp) rs587784091
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) rs1465577289
NM_022455.5(NSD1):c.29G>A (p.Arg10Lys) rs1581089074
NM_022455.5(NSD1):c.3002A>G (p.Asp1001Gly)
NM_022455.5(NSD1):c.3014T>G (p.Leu1005Arg)
NM_022455.5(NSD1):c.3029A>G (p.Lys1010Arg)
NM_022455.5(NSD1):c.3089_3090delinsCT (p.Leu1030Ser)
NM_022455.5(NSD1):c.3114G>T (p.Met1038Ile) rs1581324163
NM_022455.5(NSD1):c.3238G>A (p.Gly1080Ser)
NM_022455.5(NSD1):c.3275A>G (p.Gln1092Arg)
NM_022455.5(NSD1):c.3331G>T (p.Asp1111Tyr) rs151165525
NM_022455.5(NSD1):c.3335G>A (p.Ser1112Asn)
NM_022455.5(NSD1):c.3344A>G (p.Lys1115Arg)
NM_022455.5(NSD1):c.334G>T (p.Val112Phe) rs1756231832
NM_022455.5(NSD1):c.340A>C (p.Thr114Pro) rs749444972
NM_022455.5(NSD1):c.3418G>A (p.Val1140Ile) rs1763367854
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) rs1180409864
NM_022455.5(NSD1):c.3440A>G (p.Glu1147Gly)
NM_022455.5(NSD1):c.3473A>G (p.Lys1158Arg)
NM_022455.5(NSD1):c.3525C>G (p.Asn1175Lys)
NM_022455.5(NSD1):c.353C>T (p.Pro118Leu)
NM_022455.5(NSD1):c.3556_3557delinsAT (p.Ala1186Ile) rs797044760
NM_022455.5(NSD1):c.3577A>G (p.Ser1193Gly)
NM_022455.5(NSD1):c.3578G>A (p.Ser1193Asn)
NM_022455.5(NSD1):c.3649C>A (p.Pro1217Thr) rs372004424
NM_022455.5(NSD1):c.3682G>C (p.Asp1228His) rs1161564727
NM_022455.5(NSD1):c.3757A>G (p.Ile1253Val) rs1581327291
NM_022455.5(NSD1):c.3813G>T (p.Lys1271Asn)
NM_022455.5(NSD1):c.3837G>T (p.Lys1279Asn)
NM_022455.5(NSD1):c.3869A>C (p.Gln1290Pro) rs1562242250
NM_022455.5(NSD1):c.3922-9T>A
NM_022455.5(NSD1):c.3949C>G (p.Leu1317Val)
NM_022455.5(NSD1):c.3965G>C (p.Arg1322Pro) rs750684515
NM_022455.5(NSD1):c.3992A>G (p.Asp1331Gly) rs587784108
NM_022455.5(NSD1):c.3994G>C (p.Glu1332Gln)
NM_022455.5(NSD1):c.4091G>T (p.Gly1364Val) rs1554195876
NM_022455.5(NSD1):c.4118T>C (p.Leu1373Ser) rs1554195885
NM_022455.5(NSD1):c.417G>A (p.Gln139=)
NM_022455.5(NSD1):c.4205G>A (p.Ser1402Asn)
NM_022455.5(NSD1):c.4259C>G (p.Pro1420Arg)
NM_022455.5(NSD1):c.4273A>C (p.Lys1425Gln)
NM_022455.5(NSD1):c.4301A>G (p.Lys1434Arg)
NM_022455.5(NSD1):c.4302+3A>T
NM_022455.5(NSD1):c.4306T>C (p.Tyr1436His) rs1435199225
NM_022455.5(NSD1):c.4363A>G (p.Lys1455Glu) rs587784113
NM_022455.5(NSD1):c.4378+7A>G rs587784116
NM_022455.5(NSD1):c.4398C>G (p.Asp1466Glu)
NM_022455.5(NSD1):c.4403C>T (p.Pro1468Leu)
NM_022455.5(NSD1):c.4428T>A (p.His1476Gln) rs1581430053
NM_022455.5(NSD1):c.4459A>G (p.Lys1487Glu)
NM_022455.5(NSD1):c.4521_4522delinsTT (p.Ala1508Ser) rs1766449552
NM_022455.5(NSD1):c.4523C>A (p.Ala1508Asp) rs1766450095
NM_022455.5(NSD1):c.4546G>C (p.Glu1516Gln) rs2149899575
NM_022455.5(NSD1):c.4552G>A (p.Gly1518Ser)
NM_022455.5(NSD1):c.4561C>A (p.His1521Asn) rs1401885898
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.4574T>C (p.Met1525Thr) rs1060501491
NM_022455.5(NSD1):c.4583C>T (p.Ser1528Phe) rs1581433960
NM_022455.5(NSD1):c.4591A>G (p.Met1531Val)
NM_022455.5(NSD1):c.4604G>A (p.Arg1535His)
NM_022455.5(NSD1):c.4645T>G (p.Cys1549Gly) rs1562259810
NM_022455.5(NSD1):c.4709G>C (p.Cys1570Ser) rs1755989003
NM_022455.5(NSD1):c.4732A>G (p.Arg1578Gly) rs2149904592
NM_022455.5(NSD1):c.4764A>G (p.Thr1588=)
NM_022455.5(NSD1):c.4766-2A>C
NM_022455.5(NSD1):c.4777T>A (p.Cys1593Ser) rs1060501495
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.4843T>A (p.Tyr1615Asn) rs1756521704
NM_022455.5(NSD1):c.4856G>A (p.Cys1619Tyr) rs1554199411
NM_022455.5(NSD1):c.4865A>G (p.Lys1622Arg)
NM_022455.5(NSD1):c.4912C>T (p.His1638Tyr) rs1064796568
NM_022455.5(NSD1):c.4946C>G (p.Ala1649Gly)
NM_022455.5(NSD1):c.4961C>G (p.Ser1654Cys)
NM_022455.5(NSD1):c.4970G>A (p.Arg1657Gln) rs1756860552
NM_022455.5(NSD1):c.4988G>A (p.Arg1663His) rs1562269357
NM_022455.5(NSD1):c.5007C>G (p.His1669Gln) rs146414176
NM_022455.5(NSD1):c.5033G>C (p.Gly1678Ala)
NM_022455.5(NSD1):c.5066G>T (p.Cys1689Phe) rs1756866850
NM_022455.5(NSD1):c.5069C>G (p.Pro1690Arg) rs1554200207
NM_022455.5(NSD1):c.5120T>A (p.Val1707Asp) rs2149918094
NM_022455.5(NSD1):c.5121T>C (p.Val1707=) rs1756870315
NM_022455.5(NSD1):c.5146+2dup rs1581468671
NM_022455.5(NSD1):c.5154C>G (p.Ser1718Arg) rs1043343803
NM_022455.5(NSD1):c.5180C>A (p.Ala1727Asp)
NM_022455.5(NSD1):c.524C>T (p.Thr175Ile) rs1554167548
NM_022455.5(NSD1):c.5273A>G (p.Glu1758Gly) rs1581491894
NM_022455.5(NSD1):c.5281T>C (p.Trp1761Arg) rs1060501489
NM_022455.5(NSD1):c.5289A>T (p.Lys1763Asn) rs1135401952
NM_022455.5(NSD1):c.529G>A (p.Asp177Asn)
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022455.5(NSD1):c.557A>T (p.Glu186Val) rs1756255240
NM_022455.5(NSD1):c.5612A>G (p.Lys1871Arg)
NM_022455.5(NSD1):c.569A>T (p.Asn190Ile)
NM_022455.5(NSD1):c.56C>T (p.Pro19Leu) rs1756207246
NM_022455.5(NSD1):c.5710C>A (p.Pro1904Thr)
NM_022455.5(NSD1):c.5714G>A (p.Cys1905Tyr) rs1554204110
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5757G>T (p.Glu1919Asp) rs528069420
NM_022455.5(NSD1):c.5774G>A (p.Cys1925Tyr) rs1758804006
NM_022455.5(NSD1):c.5779G>C (p.Ala1927Pro) rs1554204128
NM_022455.5(NSD1):c.5789G>A (p.Arg1930His) rs1391504793
NM_022455.5(NSD1):c.5799C>A (p.Asn1933Lys) rs1758806559
NM_022455.5(NSD1):c.5809T>C (p.Ser1937Pro) rs587784159
NM_022455.5(NSD1):c.58G>T (p.Val20Leu) rs377302741
NM_022455.5(NSD1):c.5975A>G (p.Asp1992Gly)
NM_022455.5(NSD1):c.6009+3A>C rs2127261070
NM_022455.5(NSD1):c.6026C>T (p.Ala2009Val) rs1581535417
NM_022455.5(NSD1):c.6037G>A (p.Gly2013Arg) rs2127262871
NM_022455.5(NSD1):c.6063T>A (p.His2021Gln)
NM_022455.5(NSD1):c.6107_6109dup (p.Gly2036_Asp2037insGly) rs1554204958
NM_022455.5(NSD1):c.6115C>T (p.Arg2039Cys) rs2127263139
NM_022455.5(NSD1):c.6128T>C (p.Phe2043Ser) rs2127263182
NM_022455.5(NSD1):c.6152-14G>A rs587784182
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6176A>G (p.Asn2059Ser)
NM_022455.5(NSD1):c.6200A>T (p.Lys2067Met) rs1759549616
NM_022455.5(NSD1):c.6258G>T (p.Lys2086Asn) rs1581548127
NM_022455.5(NSD1):c.6370T>G (p.Cys2124Gly) rs1562305665
NM_022455.5(NSD1):c.6397T>C (p.Cys2133Arg)
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6413G>C (p.Cys2138Ser) rs587784195
NM_022455.5(NSD1):c.641C>T (p.Thr214Ile) rs1208967470
NM_022455.5(NSD1):c.6454C>G (p.Arg2152Gly) rs587784199
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6464-1G>A rs1760055914
NM_022455.5(NSD1):c.649_650del (p.Glu216_Ser217insTer) rs1562098870
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022455.5(NSD1):c.6504_6512del (p.Lys2169_Ala2171del)
NM_022455.5(NSD1):c.6524G>A (p.Cys2175Tyr) rs1581562963
NM_022455.5(NSD1):c.6542C>A (p.Ser2181Tyr)
NM_022455.5(NSD1):c.658_666del (p.Gly220_Val222del) rs1756266305
NM_022455.5(NSD1):c.661G>T (p.Ala221Ser)
NM_022455.5(NSD1):c.6620C>T (p.Pro2207Leu)
NM_022455.5(NSD1):c.6625G>T (p.Gly2209Trp) rs1760067330
NM_022455.5(NSD1):c.6632A>G (p.Asn2211Ser) rs2127279586
NM_022455.5(NSD1):c.6637C>G (p.Leu2213Val) rs587784212
NM_022455.5(NSD1):c.6640G>A (p.Glu2214Lys) rs587784213
NM_022455.5(NSD1):c.6654C>G (p.Ile2218Met)
NM_022455.5(NSD1):c.6674C>A (p.Pro2225Gln) rs755013078
NM_022455.5(NSD1):c.6683_6684delinsCT (p.Leu2228Pro) rs1760072488
NM_022455.5(NSD1):c.6733G>A (p.Ala2245Thr)
NM_022455.5(NSD1):c.6753A>G (p.Ser2251=) rs587784215
NM_022455.5(NSD1):c.6760CCT[1] (p.Pro2255del)
NM_022455.5(NSD1):c.6836C>T (p.Pro2279Leu)
NM_022455.5(NSD1):c.6871_6873delinsTAT (p.Gln2291Tyr) rs2127280285
NM_022455.5(NSD1):c.6889A>G (p.Arg2297Gly)
NM_022455.5(NSD1):c.6905C>T (p.Ser2302Leu)
NM_022455.5(NSD1):c.6920A>C (p.Gln2307Pro) rs2127280443
NM_022455.5(NSD1):c.6971G>C (p.Gly2324Ala)
NM_022455.5(NSD1):c.7016C>T (p.Pro2339Leu) rs1581564675
NM_022455.5(NSD1):c.7022C>T (p.Ser2341Phe) rs1319472971
NM_022455.5(NSD1):c.709A>G (p.Lys237Glu) rs1756273326
NM_022455.5(NSD1):c.7144A>G (p.Thr2382Ala) rs765876148
NM_022455.5(NSD1):c.7159C>G (p.Pro2387Ala) rs1416255762
NM_022455.5(NSD1):c.7220C>G (p.Thr2407Ser)
NM_022455.5(NSD1):c.7321C>G (p.Pro2441Ala)
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665
NM_022455.5(NSD1):c.7454T>C (p.Val2485Ala)
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7510G>A (p.Val2504Ile) rs1005975383
NM_022455.5(NSD1):c.7554AGC[2] (p.Ala2521del)
NM_022455.5(NSD1):c.7595C>T (p.Ser2532Leu)
NM_022455.5(NSD1):c.7615C>G (p.Leu2539Val) rs1760151289
NM_022455.5(NSD1):c.7648G>A (p.Glu2550Lys) rs1180593710
NM_022455.5(NSD1):c.7663G>A (p.Ala2555Thr) rs1450153384
NM_022455.5(NSD1):c.7669G>A (p.Gly2557Arg)
NM_022455.5(NSD1):c.7675G>A (p.Ala2559Thr)
NM_022455.5(NSD1):c.769C>T (p.Pro257Ser) rs1756280868
NM_022455.5(NSD1):c.7700C>G (p.Pro2567Arg)
NM_022455.5(NSD1):c.7706C>G (p.Pro2569Arg)
NM_022455.5(NSD1):c.7748del (p.Met2583fs) rs1562311573
NM_022455.5(NSD1):c.7768C>G (p.Pro2590Ala)
NM_022455.5(NSD1):c.7778C>A (p.Ala2593Asp)
NM_022455.5(NSD1):c.7889C>A (p.Ala2630Asp)
NM_022455.5(NSD1):c.788_789del (p.Thr263fs) rs1756282703
NM_022455.5(NSD1):c.7922C>T (p.Ala2641Val) rs1371700950
NM_022455.5(NSD1):c.793A>G (p.Ile265Val) rs771587260
NM_022455.5(NSD1):c.8018C>G (p.Pro2673Arg) rs1554208207
NM_022455.5(NSD1):c.805G>A (p.Glu269Lys) rs751787444
NM_022455.5(NSD1):c.890G>C (p.Gly297Ala) rs1709968423
NM_022455.5(NSD1):c.922C>G (p.Pro308Ala)
NM_022455.5(NSD1):c.934C>T (p.Pro312Ser)
NM_022455.5(NSD1):c.97G>A (p.Gly33Ser)

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