ClinVar Miner

List of variants reported as likely benign for Weaver syndrome

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ClinVar version:
Total variants: 233
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HGVS dbSNP gnomAD frequency
NM_004456.4(EZH2):c.*275A>G rs543537882 0.00163
NM_004456.5(EZH2):c.625+5G>A rs143615322 0.00066
NM_022455.5(NSD1):c.*3098dup rs145155077 0.00042
NM_022455.5(NSD1):c.3722G>C (p.Ser1241Thr) rs138641637 0.00035
NM_004456.5(EZH2):c.965A>G (p.Asn322Ser) rs151023145 0.00032
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.1240+10G>A rs374888907 0.00021
NM_004456.5(EZH2):c.1458C>T (p.Pro486=) rs376661392 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.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.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.149T>C (p.Leu50Ser) rs775407864 0.00008
NM_004456.5(EZH2):c.1110C>T (p.Pro370=) rs201699310 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.2029+17G>A rs769129417 0.00006
NM_004456.5(EZH2):c.2110+15C>T rs533049074 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.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_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 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.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_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
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.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_022455.5(NSD1):c.2170G>A (p.Glu724Lys) rs771456995 0.00002
NM_004456.5(EZH2):c.100C>A (p.Arg34=) rs772477320 0.00001
NM_004456.5(EZH2):c.1091C>T (p.Pro364Leu) rs757601923 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.604G>A (p.Asp202Asn) rs192731117 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.963C>T (p.Asp321=) rs762088344 0.00001
NM_004456.4(EZH2):c.-174dup rs545716282
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.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.1050C>A (p.Thr350=) rs1478611049
NM_004456.5(EZH2):c.1061G>A (p.Arg354His)
NM_004456.5(EZH2):c.1140A>G (p.Ser380=) rs752843868
NM_004456.5(EZH2):c.117+16T>C
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.118-5_118-4del rs3214332
NM_004456.5(EZH2):c.1209A>G (p.Glu403=) rs199543597
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.1263A>G (p.Thr421=) rs764997925
NM_004456.5(EZH2):c.12T>G (p.Thr4=) rs1002163012
NM_004456.5(EZH2):c.1320T>A (p.Ala440=) rs2129471359
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.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.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.1488A>G (p.Lys496=)
NM_004456.5(EZH2):c.1505+12A>T
NM_004456.5(EZH2):c.1506-16C>A
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.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.1680C>T (p.Asn560=) rs1182777179
NM_004456.5(EZH2):c.1689G>T (p.Pro563=)
NM_004456.5(EZH2):c.1698C>T (p.Arg566=)
NM_004456.5(EZH2):c.1707A>T (p.Ala569=)
NM_004456.5(EZH2):c.1749A>G (p.Arg583=)
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.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.1899C>A (p.Ile633=)
NM_004456.5(EZH2):c.1908T>C (p.Pro636=)
NM_004456.5(EZH2):c.1947+10T>G
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.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.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.2058T>G (p.Gly686=)
NM_004456.5(EZH2):c.2103T>C (p.Tyr701=) rs921971181
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.2111-5T>C
NM_004456.5(EZH2):c.2111-6T>C rs1802356752
NM_004456.5(EZH2):c.2111-8C>T
NM_004456.5(EZH2):c.2130T>C (p.Asp710=)
NM_004456.5(EZH2):c.2136G>A (p.Arg712=) rs777523893
NM_004456.5(EZH2):c.2166G>A (p.Gln722=)
NM_004456.5(EZH2):c.2199C>T (p.Tyr733=)
NM_004456.5(EZH2):c.2214C>T (p.Ala738=)
NM_004456.5(EZH2):c.2217G>T (p.Leu739=) rs1584844275
NM_004456.5(EZH2):c.237G>A (p.Gly79=)
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.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.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.364-15del
NM_004456.5(EZH2):c.364-16T>C
NM_004456.5(EZH2):c.364-7C>A
NM_004456.5(EZH2):c.364-9T>G
NM_004456.5(EZH2):c.484+15T>C
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.51G>A (p.Lys17=)
NM_004456.5(EZH2):c.531C>T (p.Ala177=) rs1808497396
NM_004456.5(EZH2):c.540A>G (p.Gln180=)
NM_004456.5(EZH2):c.582A>G (p.Glu194=)
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+7C>T
NM_004456.5(EZH2):c.626-17C>T
NM_004456.5(EZH2):c.626-6G>T
NM_004456.5(EZH2):c.647G>A (p.Arg216Gln)
NM_004456.5(EZH2):c.714A>G (p.Glu238=)
NM_004456.5(EZH2):c.720A>T (p.Leu240=)
NM_004456.5(EZH2):c.741C>T (p.Leu247=)
NM_004456.5(EZH2):c.744C>G (p.Thr248=) rs541419393
NM_004456.5(EZH2):c.78G>A (p.Leu26=)
NM_004456.5(EZH2):c.813T>C (p.Ser271=)
NM_004456.5(EZH2):c.87C>T (p.Leu29=) rs773579841
NM_004456.5(EZH2):c.891T>C (p.His297=)
NM_004456.5(EZH2):c.907+11A>G
NM_004456.5(EZH2):c.907+20C>G
NM_004456.5(EZH2):c.908-10dup rs1354070612
NM_004456.5(EZH2):c.952A>G (p.Thr318Ala)
NM_004456.5(EZH2):c.954A>T (p.Thr318=)
NM_004456.5(EZH2):c.999+7C>T rs2129472364

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