ClinVar Miner

List of variants in gene EZH2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_004456.5(EZH2):c.1947+236T>C rs2270205 0.79131
NM_004456.5(EZH2):c.246+37T>C rs10274535 0.75951
NM_004456.5(EZH2):c.2195+99T>C rs740949 0.71721
NM_004456.5(EZH2):c.1852-21T>C rs2072407 0.67669
NM_004456.5(EZH2):c.2196-61_2196-57dup rs560966145 0.64914
NM_004456.5(EZH2):c.118-63G>A rs28723387 0.15861
NM_004456.5(EZH2):c.2110+39A>C rs10268879 0.08085
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_004456.5(EZH2):c.247-80G>A rs17552167 0.05397
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_004456.5(EZH2):c.1241-135C>T rs17551792 0.04469
NM_004456.5(EZH2):c.-7-218T>G rs73471834 0.03546
NM_004456.5(EZH2):c.-7-236C>T rs73158267 0.02686
NM_004456.5(EZH2):c.626-277A>C rs78667365 0.02337
NM_004456.5(EZH2):c.2195+178T>C rs73745388 0.02020
NM_004456.5(EZH2):c.625+240C>T rs111384552 0.01916
NM_004456.5(EZH2):c.1505+269G>C rs73471806 0.01764
NM_004456.5(EZH2):c.1240+35T>C rs77634281 0.01380
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) rs77051363 0.01331
NM_004456.5(EZH2):c.907+84T>A rs7779783 0.01330
NM_004456.5(EZH2):c.626-118T>C rs115691097 0.01322
NM_004456.5(EZH2):c.1240+48G>A rs75046025 0.01183
NM_004456.5(EZH2):c.484+88T>A rs112090673 0.01181
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) rs41277437 0.01093
NM_004456.5(EZH2):c.2196-20T>C rs116768205 0.01015
NM_004456.5(EZH2):c.2196-244A>G rs74580325 0.01006
NM_004456.5(EZH2):c.485-7G>A rs112932272 0.00984
NM_004456.5(EZH2):c.908-99G>A rs183655615 0.00983
NM_004456.5(EZH2):c.2029+127G>A rs143808608 0.00979
NM_004456.5(EZH2):c.-8+703C>T rs113739503 0.00876
NM_004456.5(EZH2):c.246+229G>A rs112676067 0.00771
NM_004456.5(EZH2):c.363+43T>C rs141959864 0.00626
NM_004456.5(EZH2):c.2196-130T>G rs200320558 0.00566
NM_004456.5(EZH2):c.728+19G>C rs114692729 0.00566
NM_004456.5(EZH2):c.1673-279G>A rs41277440 0.00524
NM_004456.5(EZH2):c.1506-239T>C rs146043537 0.00461
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.-7-165T>C rs79148783 0.00417
NM_004456.5(EZH2):c.2029+104A>G rs78140151 0.00394
NM_004456.5(EZH2):c.1000-78T>A rs146901559 0.00385
NM_004456.5(EZH2):c.1506-304C>T rs115098122 0.00384
NM_004456.5(EZH2):c.484+96T>C rs10226030 0.00379
NM_004456.5(EZH2):c.-7-280G>C rs149043898 0.00344
NM_004456.5(EZH2):c.2196-188C>G rs76153204 0.00336
NM_004456.5(EZH2):c.2111-46C>T rs183943237 0.00315
NM_004456.5(EZH2):c.2195+110G>A rs138892034 0.00286
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_004456.5(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.1673-39A>G rs200732557 0.00054
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
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.907+5G>A rs368128494 0.00019
NM_004456.5(EZH2):c.2226C>T (p.Val742=) rs148228353 0.00016
NM_004456.5(EZH2):c.1110C>T (p.Pro370=) rs201699310 0.00007
NM_004456.5(EZH2):c.2029+17G>A rs769129417 0.00006
NM_004456.5(EZH2):c.2232C>T (p.Ile744=) rs373975096 0.00003
NM_004456.5(EZH2):c.638G>A (p.Arg213His) rs377467108 0.00003
NM_004456.5(EZH2):c.1245A>C (p.Ala415=) rs764010885 0.00001
NM_004456.5(EZH2):c.2118G>A (p.Met706Ile) rs1395843139 0.00001
NM_004456.5(EZH2):c.*21del rs3217095
NM_004456.5(EZH2):c.101G>A (p.Arg34Gln) rs2129485367
NM_004456.5(EZH2):c.1070G>A (p.Gly357Asp)
NM_004456.5(EZH2):c.1084C>T (p.Arg362Trp) rs1193491117
NM_004456.5(EZH2):c.1119del (p.Thr374fs) rs1064796749
NM_004456.5(EZH2):c.1136A>G (p.Glu379Gly)
NM_004456.5(EZH2):c.1176_1177del (p.Glu392fs)
NM_004456.5(EZH2):c.118-284CA[16] rs59597308
NM_004456.5(EZH2):c.118-284CA[17] rs59597308
NM_004456.5(EZH2):c.118-284CA[18] rs59597308
NM_004456.5(EZH2):c.118-284CA[19] rs59597308
NM_004456.5(EZH2):c.118-284CA[20] rs59597308
NM_004456.5(EZH2):c.118-284CA[21] rs59597308
NM_004456.5(EZH2):c.118-287del rs1161068583
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.1182_1184del (p.Gly395del)
NM_004456.5(EZH2):c.1198_1200del (p.Lys400del) rs780357774
NM_004456.5(EZH2):c.1240+170G>C rs79514524
NM_004456.5(EZH2):c.125T>G (p.Phe42Cys) rs2129485055
NM_004456.5(EZH2):c.1288G>C (p.Glu430Gln)
NM_004456.5(EZH2):c.1363A>G (p.Asn455Asp) rs1554489250
NM_004456.5(EZH2):c.1410+19A>G rs916007011
NM_004456.5(EZH2):c.1505+20C>G rs79268614
NM_004456.5(EZH2):c.1528_1531del (p.Lys510fs)
NM_004456.5(EZH2):c.1547-11T>C
NM_004456.5(EZH2):c.1549G>A (p.Gly517Ser)
NM_004456.5(EZH2):c.1574A>G (p.Tyr525Cys)
NM_004456.5(EZH2):c.158C>T (p.Thr53Met) rs768812143
NM_004456.5(EZH2):c.1672+4_1672+7del rs1372182346
NM_004456.5(EZH2):c.1675C>A (p.Gln559Lys)
NM_004456.5(EZH2):c.1682G>A (p.Arg561His)
NM_004456.5(EZH2):c.1725G>T (p.Gln575His)
NM_004456.5(EZH2):c.1730C>T (p.Pro577Leu) rs1554486390
NM_004456.5(EZH2):c.1744G>A (p.Val582Ile) rs2129469817
NM_004456.5(EZH2):c.1835A>G (p.Gln612Arg)
NM_004456.5(EZH2):c.1851+48G>C rs377398509
NM_004456.5(EZH2):c.1948-29dup rs146223228
NM_004456.5(EZH2):c.2006G>A (p.Ser669Asn) rs2129468233
NM_004456.5(EZH2):c.2007C>G (p.Ser669Arg) rs886039601
NM_004456.5(EZH2):c.2030-273del rs5888341
NM_004456.5(EZH2):c.2039T>C (p.Val680Ala)
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys) rs587783626
NM_004456.5(EZH2):c.2069G>A (p.Arg690His) rs1554481435
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter) rs797045568
NM_004456.5(EZH2):c.218C>T (p.Ser73Phe) rs2129484932
NM_004456.5(EZH2):c.2191T>C (p.Tyr731His) rs1554481113
NM_004456.5(EZH2):c.2195+152T>C rs150233801
NM_004456.5(EZH2):c.2196-109del rs35866517
NM_004456.5(EZH2):c.2196-110_2196-109del rs35866517
NM_004456.5(EZH2):c.2196-111_2196-109del rs35866517
NM_004456.5(EZH2):c.2196-115_2196-109del rs35866517
NM_004456.5(EZH2):c.2203C>T (p.Gln735Ter) rs1554479391
NM_004456.5(EZH2):c.2212G>A (p.Ala738Thr) rs2129465347
NM_004456.5(EZH2):c.2221T>C (p.Tyr741His) rs1064795225
NM_004456.5(EZH2):c.2233G>T (p.Glu745Ter)
NM_004456.5(EZH2):c.235G>A (p.Gly79Arg)
NM_004456.5(EZH2):c.237del (p.Thr80fs)
NM_004456.5(EZH2):c.246+260del rs537327194
NM_004456.5(EZH2):c.247-15dup rs557474218
NM_004456.5(EZH2):c.32G>T (p.Gly11Val)
NM_004456.5(EZH2):c.343C>G (p.Pro115Ala) rs1324786734
NM_004456.5(EZH2):c.364-132CT[2] rs201385478
NM_004456.5(EZH2):c.38T>C (p.Val13Ala) rs2129485390
NM_004456.5(EZH2):c.485-120A>T rs73471821
NM_004456.5(EZH2):c.550G>C (p.Asp184His) rs1064796617
NM_004456.5(EZH2):c.587G>C (p.Arg196Thr) rs1051056437
NM_004456.5(EZH2):c.619C>T (p.Arg207Ter) rs1554498830
NM_004456.5(EZH2):c.722A>C (p.Lys241Thr)
NM_004456.5(EZH2):c.728+222CA[3] rs59973708
NM_004456.5(EZH2):c.73C>T (p.Arg25Ter) rs1169410711
NM_004456.5(EZH2):c.745G>A (p.Glu249Lys) rs1057520183
NM_004456.5(EZH2):c.786del (p.Asn263fs) rs2129475523
NM_004456.5(EZH2):c.817C>A (p.Gln273Lys)
NM_004456.5(EZH2):c.848C>T (p.Thr283Met) rs587778304
NM_004456.5(EZH2):c.892C>T (p.Arg298Cys) rs2129475479
NM_004456.5(EZH2):c.907+245del rs910671757
NM_004456.5(EZH2):c.914A>C (p.His305Pro)
NM_004456.5(EZH2):c.920C>T (p.Thr307Ile) rs2129472401

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