ClinVar Miner

List of variants in gene EZH2 studied for Weaver syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 425
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HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.246+37T>C rs10274535 0.75951
NM_004456.5(EZH2):c.1852-21T>C rs2072407 0.67669
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) rs77051363 0.01331
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) rs41277437 0.01093
NM_004456.5(EZH2):c.485-7G>A rs112932272 0.00984
NM_004456.5(EZH2):c.728+19G>C rs114692729 0.00566
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_004456.5(EZH2):c.396T>C (p.Pro132=) rs61732845 0.00454
NM_004456.5(EZH2):c.484+13C>T rs140616632 0.00261
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_004456.5(EZH2):c.1852-9A>G rs199654408 0.00166
NM_004456.4(EZH2):c.*275A>G rs543537882 0.00163
NM_004456.5(EZH2):c.1240+9C>A rs114320893 0.00121
NM_004456.5(EZH2):c.1505+12A>G rs192767078 0.00112
NM_004456.5(EZH2):c.1506-19T>G rs199970231 0.00079
NM_004456.5(EZH2):c.625+5G>A rs143615322 0.00066
NM_004456.5(EZH2):c.1452A>G (p.Pro484=) rs148524884 0.00048
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser) rs151023145 0.00032
NM_004456.5(EZH2):c.1392G>A (p.Gly464=) rs202179686 0.00024
NM_004456.5(EZH2):c.165C>G (p.Ile55Met) rs199645805 0.00024
NM_004456.5(EZH2):c.1983A>G (p.Lys661=) rs201616806 0.00024
NM_004456.5(EZH2):c.1547-10C>T rs202184941 0.00023
NM_004456.5(EZH2):c.1281A>G (p.Pro427=) rs530239078 0.00022
NM_004456.5(EZH2):c.1240+10G>A rs374888907 0.00021
NM_004456.5(EZH2):c.1458C>T (p.Pro486=) rs376661392 0.00019
NM_004456.5(EZH2):c.907+5G>A rs368128494 0.00019
NM_004456.5(EZH2):c.1689G>C (p.Pro563=) rs144723981 0.00016
NM_004456.5(EZH2):c.2226C>T (p.Val742=) rs148228353 0.00016
NM_004456.5(EZH2):c.1506-13T>C rs778651288 0.00015
NM_004456.5(EZH2):c.2172C>T (p.Gly724=) rs141143319 0.00015
NM_004456.5(EZH2):c.234C>T (p.Arg78=) rs140399505 0.00015
NM_004456.5(EZH2):c.1000-5C>T rs560591359 0.00012
NM_004456.5(EZH2):c.1884C>G (p.Gly628=) rs61732846 0.00012
NM_004456.5(EZH2):c.933T>C (p.Tyr311=) rs114765515 0.00012
NM_004456.5(EZH2):c.1786G>A (p.Ala596Thr) rs139878257 0.00011
NM_004456.5(EZH2):c.626-15T>C rs377135033 0.00011
NM_004456.5(EZH2):c.2124C>T (p.Asn708=) rs369705964 0.00009
NM_004456.5(EZH2):c.484+10A>G rs370302056 0.00009
NM_004456.5(EZH2):c.1416T>C (p.Tyr472=) rs369851191 0.00008
NM_004456.5(EZH2):c.149T>C (p.Leu50Ser) rs775407864 0.00008
NM_004456.5(EZH2):c.1110C>T (p.Pro370=) rs201699310 0.00007
NM_004456.5(EZH2):c.1947G>A (p.Glu649=) rs760495918 0.00007
NM_004456.5(EZH2):c.474C>T (p.His158=) rs147319809 0.00007
NM_004456.5(EZH2):c.1000-4G>A rs61753265 0.00006
NM_004456.5(EZH2):c.1302T>C (p.Asn434=) rs747539040 0.00006
NM_004456.5(EZH2):c.1719C>A (p.Thr573=) rs186989444 0.00006
NM_004456.5(EZH2):c.2029+17G>A rs769129417 0.00006
NM_004456.5(EZH2):c.2110+15C>T rs533049074 0.00006
NM_004456.5(EZH2):c.972T>G (p.Pro324=) rs574201179 0.00006
NM_004456.5(EZH2):c.2223T>C (p.Tyr741=) rs748102400 0.00005
NM_004456.5(EZH2):c.485-8C>T rs778120645 0.00005
NM_004456.5(EZH2):c.98G>A (p.Arg33Lys) rs1196167328 0.00005
NM_004456.5(EZH2):c.1000-11T>G rs749881299 0.00004
NM_004456.5(EZH2):c.1104C>T (p.Ser368=) rs184733138 0.00004
NM_004456.5(EZH2):c.1548C>T (p.Asp516=) rs199901053 0.00004
NM_004456.5(EZH2):c.2110+7A>T rs772263146 0.00004
NM_004456.5(EZH2):c.485-17C>A rs764034832 0.00004
NM_004456.5(EZH2):c.555C>T (p.Asp185=) rs555589547 0.00004
NM_004456.5(EZH2):c.573C>T (p.Asp191=) rs377682721 0.00004
NM_004456.5(EZH2):c.625+12T>G rs369310375 0.00004
NM_004456.5(EZH2):c.646C>T (p.Arg216Trp) rs771139896 0.00004
NM_004456.5(EZH2):c.729-15C>T rs373592404 0.00004
NM_004456.5(EZH2):c.1505+19T>A rs375481774 0.00003
NM_004456.5(EZH2):c.2232C>T (p.Ile744=) rs373975096 0.00003
NM_004456.5(EZH2):c.232C>T (p.Arg78Cys) rs141583753 0.00003
NM_004456.5(EZH2):c.372T>C (p.Asp124=) rs765380980 0.00003
NM_004456.5(EZH2):c.637C>T (p.Arg213Cys) rs112029831 0.00003
NM_004456.5(EZH2):c.638G>A (p.Arg213His) rs377467108 0.00003
NM_004456.5(EZH2):c.118A>G (p.Ser40Gly) rs754403133 0.00002
NM_004456.5(EZH2):c.1241-9G>T rs888876162 0.00002
NM_004456.5(EZH2):c.1411-12G>A rs773726378 0.00002
NM_004456.5(EZH2):c.1424G>C (p.Arg475Thr) rs1336390351 0.00002
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr) rs201135441 0.00002
NM_004456.5(EZH2):c.1555T>C (p.Ser519Pro) rs747009766 0.00002
NM_004456.5(EZH2):c.159G>A (p.Thr53=) rs749258482 0.00002
NM_004456.5(EZH2):c.1686T>C (p.Phe562=) rs777160626 0.00002
NM_004456.5(EZH2):c.1785C>T (p.Ala595=) rs369883286 0.00002
NM_004456.5(EZH2):c.1905T>C (p.Asp635=) rs372010918 0.00002
NM_004456.5(EZH2):c.364-17A>G rs752077109 0.00002
NM_004456.5(EZH2):c.574G>A (p.Asp192Asn) rs778968366 0.00002
NM_004456.5(EZH2):c.930T>G (p.Thr310=) rs754379530 0.00002
NM_004456.5(EZH2):c.100C>A (p.Arg34=) rs772477320 0.00001
NM_004456.5(EZH2):c.1087C>T (p.Leu363Phe) rs781431240 0.00001
NM_004456.5(EZH2):c.1091C>T (p.Pro364Leu) rs757601923 0.00001
NM_004456.5(EZH2):c.1178C>T (p.Thr393Met) rs1200905474 0.00001
NM_004456.5(EZH2):c.1198_1203del (p.Lys400_Glu401del) rs756400659 0.00001
NM_004456.5(EZH2):c.1206A>G (p.Glu402=) rs768486638 0.00001
NM_004456.5(EZH2):c.1230G>A (p.Ser410=) rs1429151324 0.00001
NM_004456.5(EZH2):c.1245A>C (p.Ala415=) rs764010885 0.00001
NM_004456.5(EZH2):c.1377T>C (p.Ile459=) rs1353514491 0.00001
NM_004456.5(EZH2):c.139C>G (p.Gln47Glu) rs972308238 0.00001
NM_004456.5(EZH2):c.1411-8C>T rs762273009 0.00001
NM_004456.5(EZH2):c.1546+7A>G rs201338384 0.00001
NM_004456.5(EZH2):c.1672+8T>C rs1177987694 0.00001
NM_004456.5(EZH2):c.1852-5T>C rs768218975 0.00001
NM_004456.5(EZH2):c.186G>A (p.Gln62=) rs1468342429 0.00001
NM_004456.5(EZH2):c.1896T>C (p.Phe632=) rs1210129833 0.00001
NM_004456.5(EZH2):c.2040G>A (p.Val680=) rs762681573 0.00001
NM_004456.5(EZH2):c.2110+9C>G rs768904493 0.00001
NM_004456.5(EZH2):c.2111-10C>T rs1802357393 0.00001
NM_004456.5(EZH2):c.251C>T (p.Ser84Leu) rs1182369323 0.00001
NM_004456.5(EZH2):c.484+15T>G rs528868013 0.00001
NM_004456.5(EZH2):c.537T>G (p.Gly179=) rs776298138 0.00001
NM_004456.5(EZH2):c.545A>G (p.Asn182Ser) rs746465165 0.00001
NM_004456.5(EZH2):c.557A>G (p.Asp186Gly) rs1346782884 0.00001
NM_004456.5(EZH2):c.568G>A (p.Gly190Arg) rs1808481008 0.00001
NM_004456.5(EZH2):c.604G>A (p.Asp202Asn) rs192731117 0.00001
NM_004456.5(EZH2):c.623A>G (p.Asp208Gly) rs61753264 0.00001
NM_004456.5(EZH2):c.688A>G (p.Met230Val) rs779951996 0.00001
NM_004456.5(EZH2):c.728+7A>C rs1231001121 0.00001
NM_004456.5(EZH2):c.732T>C (p.Tyr244=) rs767727122 0.00001
NM_004456.5(EZH2):c.792A>C (p.Ile264=) rs1807771501 0.00001
NM_004456.5(EZH2):c.908-14C>G rs371337932 0.00001
NM_004456.5(EZH2):c.958C>G (p.Leu320Val) rs6954744 0.00001
NM_004456.5(EZH2):c.963C>T (p.Asp321=) rs762088344 0.00001
NC_000007.13:g.(?_148504738)_(148544390_?)del
NC_000007.14:g.(?_148807626)_(148819707_?)dup
NM_004456.5(EZH2):c.*21del rs3217095
NM_004456.5(EZH2):c.-1_2del (p.Met1del)
NM_004456.5(EZH2):c.1000-13T>C
NM_004456.5(EZH2):c.1000-14T>G
NM_004456.5(EZH2):c.1000-19_1000-17del rs2129471867
NM_004456.5(EZH2):c.1000-7T>G
NM_004456.5(EZH2):c.1014G>A (p.Glu338=)
NM_004456.5(EZH2):c.1024G>C (p.Ala342Pro)
NM_004456.5(EZH2):c.1030A>G (p.Thr344Ala) rs1309469934
NM_004456.5(EZH2):c.1032C>T (p.Thr344=)
NM_004456.5(EZH2):c.1033G>A (p.Ala345Thr)
NM_004456.5(EZH2):c.1044A>G (p.Ile348Met) rs2129471812
NM_004456.5(EZH2):c.1050C>A (p.Thr350=) rs1478611049
NM_004456.5(EZH2):c.1054C>G (p.Pro352Ala)
NM_004456.5(EZH2):c.1054C>T (p.Pro352Ser)
NM_004456.5(EZH2):c.1061G>A (p.Arg354His)
NM_004456.5(EZH2):c.1070G>C (p.Gly357Ala)
NM_004456.5(EZH2):c.1094A>G (p.Asn365Ser) rs1285260202
NM_004456.5(EZH2):c.1097A>G (p.Asn366Ser)
NM_004456.5(EZH2):c.1140A>G (p.Ser380=) rs752843868
NM_004456.5(EZH2):c.1144G>A (p.Asp382Asn) rs1805036322
NM_004456.5(EZH2):c.1147A>G (p.Thr383Ala)
NM_004456.5(EZH2):c.117+16T>C
NM_004456.5(EZH2):c.117+4T>C rs1814379605
NM_004456.5(EZH2):c.1172C>T (p.Thr391Ile) rs1375591963
NM_004456.5(EZH2):c.1179G>A (p.Thr393=) rs770102474
NM_004456.5(EZH2):c.1179G>C (p.Thr393=) rs770102474
NM_004456.5(EZH2):c.1179G>T (p.Thr393=) rs770102474
NM_004456.5(EZH2):c.118-15del
NM_004456.5(EZH2):c.118-17T>C
NM_004456.5(EZH2):c.118-17del
NM_004456.5(EZH2):c.118-18_118-16del rs775795844
NM_004456.5(EZH2):c.118-22_118-18del
NM_004456.5(EZH2):c.118-4T>A
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.118-4dup
NM_004456.5(EZH2):c.118-5_118-4del rs3214332
NM_004456.5(EZH2):c.1181G>C (p.Gly394Ala) rs587778305
NM_004456.5(EZH2):c.1194T>A (p.Asn398Lys) rs2129471668
NM_004456.5(EZH2):c.1198_1200del (p.Lys400del) rs780357774
NM_004456.5(EZH2):c.1200AGA[3] (p.Glu404del) rs775039041
NM_004456.5(EZH2):c.1201G>C (p.Glu401Gln) rs1805019052
NM_004456.5(EZH2):c.1209A>G (p.Glu403=) rs199543597
NM_004456.5(EZH2):c.1210_1212del (p.Glu404del) rs1805013708
NM_004456.5(EZH2):c.1215G>C (p.Lys405Asn)
NM_004456.5(EZH2):c.1218A>G (p.Lys406=)
NM_004456.5(EZH2):c.1223A>G (p.Glu408Gly)
NM_004456.5(EZH2):c.1240+13T>G
NM_004456.5(EZH2):c.1240+14A>G
NM_004456.5(EZH2):c.1240+7C>T
NM_004456.5(EZH2):c.1241-14A>G
NM_004456.5(EZH2):c.1246A>G (p.Asn416Asp)
NM_004456.5(EZH2):c.1258C>G (p.Gln420Glu)
NM_004456.5(EZH2):c.1260A>T (p.Gln420His)
NM_004456.5(EZH2):c.1263A>G (p.Thr421=) rs764997925
NM_004456.5(EZH2):c.1267A>G (p.Ile423Val)
NM_004456.5(EZH2):c.1286T>A (p.Ile429Asn) rs770327434
NM_004456.5(EZH2):c.12T>G (p.Thr4=) rs1002163012
NM_004456.5(EZH2):c.1306G>A (p.Glu436Lys)
NM_004456.5(EZH2):c.1320T>A (p.Ala440=) rs2129471359
NM_004456.5(EZH2):c.1330A>G (p.Met444Val) rs1425631167
NM_004456.5(EZH2):c.1335T>C (p.Phe445=)
NM_004456.5(EZH2):c.1347T>C (p.Ile449=)
NM_004456.5(EZH2):c.1362C>T (p.Asp454=) rs1804808760
NM_004456.5(EZH2):c.1364A>G (p.Asn455Ser)
NM_004456.5(EZH2):c.1410+11C>T
NM_004456.5(EZH2):c.1410+19A>G rs916007011
NM_004456.5(EZH2):c.1410+9T>C
NM_004456.5(EZH2):c.1411-17_1411-12dup rs2129471166
NM_004456.5(EZH2):c.1411-20G>C
NM_004456.5(EZH2):c.1413G>A (p.Val471=) rs1182052939
NM_004456.5(EZH2):c.1413G>T (p.Val471=)
NM_004456.5(EZH2):c.1419G>T (p.Glu473Asp) rs1190049532
NM_004456.5(EZH2):c.1456C>G (p.Pro486Ala)
NM_004456.5(EZH2):c.1458C>G (p.Pro486=)
NM_004456.5(EZH2):c.1461T>C (p.Ala487=) rs2129471140
NM_004456.5(EZH2):c.1467T>C (p.Asp489=)
NM_004456.5(EZH2):c.1474A>T (p.Thr492Ser) rs770006533
NM_004456.5(EZH2):c.1488A>G (p.Lys496=)
NM_004456.5(EZH2):c.1505+12A>T
NM_004456.5(EZH2):c.1505+20C>G rs79268614
NM_004456.5(EZH2):c.1506-16C>A
NM_004456.5(EZH2):c.1506-16_1506-13del
NM_004456.5(EZH2):c.1506-22_1506-19del
NM_004456.5(EZH2):c.1533A>G (p.Ile511Met) rs1804313910
NM_004456.5(EZH2):c.1546+19C>G
NM_004456.5(EZH2):c.1547-8T>C
NM_004456.5(EZH2):c.1551C>G (p.Gly517=)
NM_004456.5(EZH2):c.1560C>T (p.Asn520=)
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr) rs2129470135
NM_004456.5(EZH2):c.1613C>A (p.Ser538Ter) rs1804158896
NM_004456.5(EZH2):c.1614G>C (p.Ser538=) rs779840919
NM_004456.5(EZH2):c.1659A>G (p.Gln553=)
NM_004456.5(EZH2):c.1672+14G>A
NM_004456.5(EZH2):c.1672+15C>G
NM_004456.5(EZH2):c.1672+19G>C
NM_004456.5(EZH2):c.1672+20A>G
NM_004456.5(EZH2):c.1672+2dup rs2129470090
NM_004456.5(EZH2):c.1680C>T (p.Asn560=) rs1182777179
NM_004456.5(EZH2):c.1682G>T (p.Arg561Leu) rs1164610428
NM_004456.5(EZH2):c.1689G>T (p.Pro563=)
NM_004456.5(EZH2):c.1696C>A (p.Arg566Ser) rs1554486440
NM_004456.5(EZH2):c.1698C>T (p.Arg566=)
NM_004456.5(EZH2):c.1707A>T (p.Ala569=)
NM_004456.5(EZH2):c.1717A>T (p.Thr573Ser)
NM_004456.5(EZH2):c.1749A>G (p.Arg583=)
NM_004456.5(EZH2):c.1763A>G (p.Asp588Gly)
NM_004456.5(EZH2):c.1771C>G (p.Leu591Val)
NM_004456.5(EZH2):c.1779T>C (p.Cys593=)
NM_004456.5(EZH2):c.177A>G (p.Glu59=) rs1240590434
NM_004456.5(EZH2):c.1809T>C (p.Asn603=) rs1473254071
NM_004456.5(EZH2):c.1815C>T (p.Ser605=)
NM_004456.5(EZH2):c.1824C>T (p.Asn608=) rs2129469777
NM_004456.5(EZH2):c.1841G>C (p.Gly614Ala)
NM_004456.5(EZH2):c.1851+11A>G
NM_004456.5(EZH2):c.1851+12G>A rs1803874326
NM_004456.5(EZH2):c.1852-19A>G
NM_004456.5(EZH2):c.1852-4C>G
NM_004456.5(EZH2):c.1852-9A>C rs199654408
NM_004456.5(EZH2):c.1876G>A (p.Val626Met) rs587783625
NM_004456.5(EZH2):c.1879G>T (p.Ala627Ser)
NM_004456.5(EZH2):c.1882G>A (p.Gly628Ser)
NM_004456.5(EZH2):c.188G>A (p.Arg63Gln)
NM_004456.5(EZH2):c.1899C>A (p.Ile633=)
NM_004456.5(EZH2):c.1908T>C (p.Pro636=)
NM_004456.5(EZH2):c.1927A>C (p.Ile643Leu)
NM_004456.5(EZH2):c.1947+10T>G
NM_004456.5(EZH2):c.1947G>C (p.Glu649Asp)
NM_004456.5(EZH2):c.1948-10_1948-9del
NM_004456.5(EZH2):c.1948-16G>C
NM_004456.5(EZH2):c.1948-18C>T
NM_004456.5(EZH2):c.1948-8_1948-4del rs1233925623
NM_004456.5(EZH2):c.1949T>C (p.Ile650Thr)
NM_004456.5(EZH2):c.1990G>T (p.Asp664Tyr) rs1060503430
NM_004456.5(EZH2):c.2000T>C (p.Met667Thr) rs1584875099
NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn) rs2129468233
NM_004456.5(EZH2):c.2015T>G (p.Phe672Cys)
NM_004456.5(EZH2):c.2021del (p.Asn673_Leu674insTer) rs2129468225
NM_004456.5(EZH2):c.2026A>G (p.Asn676Asp)
NM_004456.5(EZH2):c.2029+10A>G rs1242802484
NM_004456.5(EZH2):c.2029+14del
NM_004456.5(EZH2):c.2029+18G>A
NM_004456.5(EZH2):c.2029+18G>C
NM_004456.5(EZH2):c.2029+18G>T rs777082272
NM_004456.5(EZH2):c.2029+3_2029+25del
NM_004456.5(EZH2):c.2029+4T>C
NM_004456.5(EZH2):c.2030-10T>C
NM_004456.5(EZH2):c.2030-19C>T
NM_004456.5(EZH2):c.2030-20G>A
NM_004456.5(EZH2):c.2030-20G>C
NM_004456.5(EZH2):c.2030-5T>G rs763969852
NM_004456.5(EZH2):c.2044G>A (p.Ala682Thr) rs397515547
NM_004456.5(EZH2):c.2048C>A (p.Thr683Asn) rs1802412684
NM_004456.5(EZH2):c.2048C>T (p.Thr683Ile)
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.2051G>A (p.Arg684His)
NM_004456.5(EZH2):c.2058T>G (p.Gly686=)
NM_004456.5(EZH2):c.2079T>A (p.Asn693Lys) rs2129467665
NM_004456.5(EZH2):c.2080C>T (p.His694Tyr) rs193921147
NM_004456.5(EZH2):c.2084C>T (p.Ser695Leu) rs2129467664
NM_004456.5(EZH2):c.208A>G (p.Ile70Val)
NM_004456.5(EZH2):c.2103T>C (p.Tyr701=) rs921971181
NM_004456.5(EZH2):c.2105C>T (p.Ala702Val)
NM_004456.5(EZH2):c.2110+16G>A
NM_004456.5(EZH2):c.2110+17T>C
NM_004456.5(EZH2):c.2110+8C>T rs748403028
NM_004456.5(EZH2):c.2111-15T>C
NM_004456.5(EZH2):c.2111-16GT[2]
NM_004456.5(EZH2):c.2111-3_2115dup
NM_004456.5(EZH2):c.2111-5T>C
NM_004456.5(EZH2):c.2111-6T>C rs1802356752
NM_004456.5(EZH2):c.2111-8C>T
NM_004456.5(EZH2):c.2113A>G (p.Met705Val)
NM_004456.5(EZH2):c.2130T>C (p.Asp710=)
NM_004456.5(EZH2):c.2132A>T (p.His711Leu) rs1584862929
NM_004456.5(EZH2):c.2136G>A (p.Arg712=) rs777523893
NM_004456.5(EZH2):c.2166G>A (p.Gln722=)
NM_004456.5(EZH2):c.2173G>A (p.Glu725Lys)
NM_004456.5(EZH2):c.2185T>C (p.Phe729Leu) rs2129467486
NM_004456.5(EZH2):c.2187T>G (p.Phe729Leu) rs1584862620
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) rs797045568
NM_004456.5(EZH2):c.2195+4G>A rs1392250326
NM_004456.5(EZH2):c.2195+4G>C rs1392250326
NM_004456.5(EZH2):c.2196-10_2197dup rs1584844589
NM_004456.5(EZH2):c.2196-2A>G rs1584844649
NM_004456.5(EZH2):c.2199C>G (p.Tyr733Ter) rs776312600
NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)
NM_004456.5(EZH2):c.2204_2211dup (p.Ala738fs) rs2129465354
NM_004456.5(EZH2):c.2213C>A (p.Ala738Asp) rs1131692184
NM_004456.5(EZH2):c.2214C>T (p.Ala738=)
NM_004456.5(EZH2):c.2217G>T (p.Leu739=) rs1584844275
NM_004456.5(EZH2):c.2218_2220dup (p.Lys740dup) rs1563181659
NM_004456.5(EZH2):c.2220G>C (p.Lys740Asn)
NM_004456.5(EZH2):c.2233G>A (p.Glu745Lys) rs397515548
NM_004456.5(EZH2):c.2234A>G (p.Glu745Gly) rs1584844048
NM_004456.5(EZH2):c.2235A>T (p.Glu745Asp) rs1563181538
NM_004456.5(EZH2):c.2236A>G (p.Arg746Gly) rs587783627
NM_004456.5(EZH2):c.2250C>G (p.Ile750Met) rs779629814
NM_004456.5(EZH2):c.233G>A (p.Arg78His)
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
NM_004456.5(EZH2):c.237G>A (p.Gly79=)
NM_004456.5(EZH2):c.239C>T (p.Thr80Ile)
NM_004456.5(EZH2):c.241A>G (p.Arg81Gly)
NM_004456.5(EZH2):c.246+13_246+17del
NM_004456.5(EZH2):c.246+19T>C
NM_004456.5(EZH2):c.247-15dup rs557474218
NM_004456.5(EZH2):c.265T>A (p.Leu89Met)
NM_004456.5(EZH2):c.283G>A (p.Val95Ile) rs2129478065
NM_004456.5(EZH2):c.284T>G (p.Val95Gly)
NM_004456.5(EZH2):c.285C>A (p.Val95=)
NM_004456.5(EZH2):c.285C>T (p.Val95=)
NM_004456.5(EZH2):c.300T>C (p.Thr100=)
NM_004456.5(EZH2):c.310G>A (p.Val104Ile)
NM_004456.5(EZH2):c.318A>T (p.Ser106=) rs1378180485
NM_004456.5(EZH2):c.363+9A>G
NM_004456.5(EZH2):c.364-14T>A rs778048238
NM_004456.5(EZH2):c.364-14dup rs750852762
NM_004456.5(EZH2):c.364-15del
NM_004456.5(EZH2):c.364-16T>C
NM_004456.5(EZH2):c.364-20A>G rs2129477058
NM_004456.5(EZH2):c.364-7C>A
NM_004456.5(EZH2):c.364-9T>G
NM_004456.5(EZH2):c.364-9_364-8del
NM_004456.5(EZH2):c.386A>G (p.His129Arg) rs2129477011
NM_004456.5(EZH2):c.394C>T (p.Pro132Ser) rs193921148
NM_004456.5(EZH2):c.395C>T (p.Pro132Leu)
NM_004456.5(EZH2):c.397T>G (p.Tyr133Asp)
NM_004456.5(EZH2):c.398A>G (p.Tyr133Cys) rs1808822115
NM_004456.5(EZH2):c.432T>G (p.Thr144=) rs2129476946
NM_004456.5(EZH2):c.437T>C (p.Ile146Thr)
NM_004456.5(EZH2):c.442G>A (p.Glu148Lys) rs1808814702
NM_004456.5(EZH2):c.44G>T (p.Trp15Leu) rs760133156
NM_004456.5(EZH2):c.457_459del (p.Tyr153del) rs193921146
NM_004456.5(EZH2):c.458A>G (p.Tyr153Cys) rs797044844
NM_004456.5(EZH2):c.472C>T (p.His158Tyr) rs2129476891
NM_004456.5(EZH2):c.484+15T>C
NM_004456.5(EZH2):c.484+6C>T rs2129476856
NM_004456.5(EZH2):c.484+7C>A
NM_004456.5(EZH2):c.484+8A>G
NM_004456.5(EZH2):c.485-14T>A
NM_004456.5(EZH2):c.485-14T>C
NM_004456.5(EZH2):c.485-9G>A
NM_004456.5(EZH2):c.492G>A (p.Gly164=)
NM_004456.5(EZH2):c.515T>C (p.Val172Ala)
NM_004456.5(EZH2):c.51G>A (p.Lys17=)
NM_004456.5(EZH2):c.531C>T (p.Ala177=) rs1808497396
NM_004456.5(EZH2):c.532C>G (p.Leu178Val)
NM_004456.5(EZH2):c.535G>A (p.Gly179Ser)
NM_004456.5(EZH2):c.536G>C (p.Gly179Ala)
NM_004456.5(EZH2):c.540A>G (p.Gln180=)
NM_004456.5(EZH2):c.546TGA[2] (p.Asp189del) rs766699965
NM_004456.5(EZH2):c.549T>A (p.Asp183Glu)
NM_004456.5(EZH2):c.557ATG[3] (p.Asp189del) rs587778303
NM_004456.5(EZH2):c.559G>A (p.Asp187Asn) rs1322202663
NM_004456.5(EZH2):c.562G>A (p.Asp188Asn) rs1585021829
NM_004456.5(EZH2):c.563A>C (p.Asp188Ala)
NM_004456.5(EZH2):c.582A>G (p.Glu194=)
NM_004456.5(EZH2):c.587G>C (p.Arg196Thr) rs1051056437
NM_004456.5(EZH2):c.603A>G (p.Lys201=)
NM_004456.5(EZH2):c.618C>T (p.His206=) rs752660754
NM_004456.5(EZH2):c.625+4T>C
NM_004456.5(EZH2):c.625+7C>T
NM_004456.5(EZH2):c.626-17C>T
NM_004456.5(EZH2):c.626-3T>C rs775960927
NM_004456.5(EZH2):c.626-6G>T
NM_004456.5(EZH2):c.626A>T (p.Asp209Val) rs1807983236
NM_004456.5(EZH2):c.644C>T (p.Pro215Leu)
NM_004456.5(EZH2):c.647G>A (p.Arg216Gln)
NM_004456.5(EZH2):c.679A>G (p.Ile227Val)
NM_004456.5(EZH2):c.709G>A (p.Ala237Thr)
NM_004456.5(EZH2):c.714A>G (p.Glu238=)
NM_004456.5(EZH2):c.71T>C (p.Met24Thr) rs2129485374
NM_004456.5(EZH2):c.720A>T (p.Leu240=)
NM_004456.5(EZH2):c.729-12G>A
NM_004456.5(EZH2):c.741C>T (p.Leu247=)
NM_004456.5(EZH2):c.742A>G (p.Thr248Ala)
NM_004456.5(EZH2):c.744C>G (p.Thr248=) rs541419393
NM_004456.5(EZH2):c.74G>A (p.Arg25Gln) rs2129485373
NM_004456.5(EZH2):c.754C>T (p.Leu252Phe) rs2129475548
NM_004456.5(EZH2):c.763G>A (p.Ala255Thr)
NM_004456.5(EZH2):c.764C>T (p.Ala255Val)
NM_004456.5(EZH2):c.775G>C (p.Glu259Gln) rs1807775523
NM_004456.5(EZH2):c.787A>G (p.Asn263Asp)
NM_004456.5(EZH2):c.78G>A (p.Leu26=)
NM_004456.5(EZH2):c.811T>C (p.Ser271Pro) rs2129475506
NM_004456.5(EZH2):c.813T>C (p.Ser271=)
NM_004456.5(EZH2):c.824A>C (p.Glu275Ala)
NM_004456.5(EZH2):c.87C>T (p.Leu29=) rs773579841
NM_004456.5(EZH2):c.891T>C (p.His297=)
NM_004456.5(EZH2):c.899G>A (p.Cys300Tyr)
NM_004456.5(EZH2):c.900C>G (p.Cys300Trp)
NM_004456.5(EZH2):c.906T>C (p.Tyr302=)
NM_004456.5(EZH2):c.907+11A>G
NM_004456.5(EZH2):c.907+20C>G
NM_004456.5(EZH2):c.907+4C>T
NM_004456.5(EZH2):c.908-10dup rs1354070612
NM_004456.5(EZH2):c.946A>G (p.Thr316Ala)
NM_004456.5(EZH2):c.952A>G (p.Thr318Ala)
NM_004456.5(EZH2):c.954A>T (p.Thr318=)
NM_004456.5(EZH2):c.956C>T (p.Ala319Val) rs1805459613
NM_004456.5(EZH2):c.963C>G (p.Asp321Glu)
NM_004456.5(EZH2):c.968A>T (p.Lys323Ile)
NM_004456.5(EZH2):c.999+7C>T rs2129472364
NM_004456.5(EZH2):c.9G>C (p.Gln3His) rs1359374351

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