ClinVar Miner

List of variants studied for Ohdo syndrome and variants

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 196
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val) rs766894762 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His) rs368259149 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His) rs143090869 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) rs778899637 0.00007
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00007
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00006
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00006
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00006
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln) rs773473193 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00003
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005120.3(MED12):c.6267+166G>A rs1247198443 0.00002
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys) rs140992439 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.3210-27C>T rs752463122 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) rs1842093971 0.00001
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu) rs965354059 0.00001
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg) rs1019373559 0.00001
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys) rs756038238 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln) rs773318837 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.2116-9A>G rs747646395 0.00001
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00001
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln) rs753695521 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) rs779092722 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_005120.3(MED12):c.1102-6T>C
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) rs2092320033
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile) rs2147844978
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.823C>G (p.Leu275Val) rs2147778826
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_012330.4(KAT6B):c.1030C>T (p.Arg344Ter)
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.130A>T (p.Lys44Ter)
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603
NM_012330.4(KAT6B):c.1993+1G>A rs2133733164
NM_012330.4(KAT6B):c.1A>G (p.Met1Val)
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly)
NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) rs1589750251
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2510del (p.Cys837fs) rs1842737894
NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) rs1842975561
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) rs1845340492
NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) rs199470468
NM_012330.4(KAT6B):c.3022-1G>A rs1845433207
NM_012330.4(KAT6B):c.3022-5C>G rs2134165271
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) rs1589824355
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) rs1554843829
NM_012330.4(KAT6B):c.3217G>T (p.Glu1073Ter) rs761860621
NM_012330.4(KAT6B):c.3223G>T (p.Glu1075Ter)
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3246del (p.Glu1083fs)
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) rs1554843880
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) rs751215527
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup) rs71929101
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) rs1589831585
NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) rs1589832003
NM_012330.4(KAT6B):c.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) rs2132074046
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) rs771449717
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) rs863224883
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs)
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) rs199470476
NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) rs1846092532
NM_012330.4(KAT6B):c.4096G>T (p.Glu1366Ter)
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) rs1589842816
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs) rs2134240152
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) rs2134240789
NM_012330.4(KAT6B):c.4506del (p.Asp1503fs) rs2134241204
NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) rs1554845880
NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) rs1554845902
NM_012330.4(KAT6B):c.4592del (p.Asn1531fs)
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) rs1589845386
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter)
NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) rs199470483
NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) rs199470484
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala)
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) rs745470061
NM_012330.4(KAT6B):c.622-7G>A rs751195432
NM_012330.4(KAT6B):c.847-2A>G rs1841745686

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.