ClinVar Miner

List of variants studied for Ohdo syndrome and variants by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00570
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00389
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.2374-10T>C rs376833457 0.00035
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00029
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00024
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00023
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00022
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_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 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.1994-20C>T rs373239366 0.00015
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.2272A>G (p.Met758Val) rs766894762 0.00012
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.3729G>C (p.Lys1243Asn) rs550048327 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr) rs766117254 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00008
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00007
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile) rs142688976 0.00007
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys) rs766989154 0.00006
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00006
NM_012330.4(KAT6B):c.4118A>G (p.Glu1373Gly) rs373140884 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.282G>A (p.Gly94=) rs569038847 0.00005
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4831G>A (p.Val1611Ile) rs146494314 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00005
NM_012330.4(KAT6B):c.5434T>C (p.Ser1812Pro) rs200728982 0.00005
NM_005120.3(MED12):c.1974+15C>T rs186876895 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.1264C>T (p.Arg422Trp) rs368913305 0.00003
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val) rs749428929 0.00003
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.2324A>T (p.His775Leu) rs752359931 0.00003
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00003
NM_012330.4(KAT6B):c.3358G>T (p.Ala1120Ser) rs777180869 0.00003
NM_012330.4(KAT6B):c.3737A>G (p.Gln1246Arg) rs1362318886 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.4834C>T (p.Arg1612Cys) rs140992439 0.00003
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr) rs199792793 0.00003
NM_012330.4(KAT6B):c.5863C>G (p.Pro1955Ala) rs762788479 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
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_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.1708C>T (p.Arg570Cys) rs751283321 0.00002
NM_012330.4(KAT6B):c.1754C>T (p.Ala585Val) rs780418110 0.00002
NM_012330.4(KAT6B):c.2845G>A (p.Asp949Asn) rs903839861 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.3155G>C (p.Arg1052Pro) rs368055515 0.00002
NM_012330.4(KAT6B):c.5327C>A (p.Thr1776Asn) rs747908108 0.00002
NM_012330.4(KAT6B):c.5602G>A (p.Val1868Ile) rs199806711 0.00002
NM_012330.4(KAT6B):c.5693G>A (p.Arg1898Gln) rs749834266 0.00002
NM_012330.4(KAT6B):c.86A>T (p.Glu29Val) rs1167009272 0.00002
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg) rs1842093971 0.00001
NM_012330.4(KAT6B):c.1213A>C (p.Thr405Pro) rs755528779 0.00001
NM_012330.4(KAT6B):c.160A>G (p.Ser54Gly) rs1248551392 0.00001
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=) rs1315521603 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.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.2348G>A (p.Arg783Gln) rs1405330923 0.00001
NM_012330.4(KAT6B):c.2374-3T>C rs918213648 0.00001
NM_012330.4(KAT6B):c.2405A>G (p.Gln802Arg) rs778305732 0.00001
NM_012330.4(KAT6B):c.2557T>C (p.Tyr853His) rs1350442176 0.00001
NM_012330.4(KAT6B):c.2695C>T (p.Arg899Cys) rs559399976 0.00001
NM_012330.4(KAT6B):c.2696G>A (p.Arg899His) rs761702778 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.3226G>A (p.Glu1076Lys) rs750930283 0.00001
NM_012330.4(KAT6B):c.3334A>G (p.Arg1112Gly) rs763583481 0.00001
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) rs1287506606 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.385A>G (p.Ile129Val) rs778694892 0.00001
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg) rs377300582 0.00001
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4669G>A (p.Asp1557Asn) rs772986982 0.00001
NM_012330.4(KAT6B):c.4729C>T (p.Arg1577Cys) rs754132525 0.00001
NM_012330.4(KAT6B):c.4765G>A (p.Asp1589Asn) rs747832667 0.00001
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val) rs772132735 0.00001
NM_012330.4(KAT6B):c.5933A>G (p.Asn1978Ser) rs747675518 0.00001
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp) rs141200092 0.00001
NM_012330.4(KAT6B):c.622-7G>A rs751195432 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012330.4(KAT6B):c.802G>A (p.Glu268Lys) rs1427379278 0.00001
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del) rs2092347427
NM_012330.4(KAT6B):c.101A>G (p.His34Arg)
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) rs182392778
NM_012330.4(KAT6B):c.1114C>T (p.Pro372Ser)
NM_012330.4(KAT6B):c.1168G>C (p.Ala390Pro)
NM_012330.4(KAT6B):c.1196T>C (p.Leu399Ser)
NM_012330.4(KAT6B):c.1210C>T (p.Pro404Ser) rs2548951794
NM_012330.4(KAT6B):c.1214C>G (p.Thr405Ser)
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del) rs760375622
NM_012330.4(KAT6B):c.1341T>G (p.Asp447Glu)
NM_012330.4(KAT6B):c.1351T>A (p.Ser451Thr)
NM_012330.4(KAT6B):c.14C>G (p.Ala5Gly)
NM_012330.4(KAT6B):c.1512C>G (p.Ser504Arg)
NM_012330.4(KAT6B):c.1543TCT[1] (p.Ser516del) rs752989133
NM_012330.4(KAT6B):c.1619T>C (p.Leu540Pro)
NM_012330.4(KAT6B):c.1673G>C (p.Arg558Pro)
NM_012330.4(KAT6B):c.1739C>T (p.Thr580Met)
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181
NM_012330.4(KAT6B):c.1993+5G>A
NM_012330.4(KAT6B):c.2038A>T (p.Asn680Tyr)
NM_012330.4(KAT6B):c.2066C>T (p.Thr689Ile)
NM_012330.4(KAT6B):c.2209C>T (p.Pro737Ser)
NM_012330.4(KAT6B):c.223G>C (p.Asp75His)
NM_012330.4(KAT6B):c.2282A>G (p.Lys761Arg) rs1842534871
NM_012330.4(KAT6B):c.2373+6C>A rs192506542
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2377G>A (p.Asp793Asn)
NM_012330.4(KAT6B):c.246A>G (p.Ser82=)
NM_012330.4(KAT6B):c.2515C>G (p.Leu839Val)
NM_012330.4(KAT6B):c.2528T>A (p.Phe843Tyr)
NM_012330.4(KAT6B):c.2590C>T (p.His864Tyr)
NM_012330.4(KAT6B):c.2707C>G (p.Leu903Val)
NM_012330.4(KAT6B):c.2752_2754del (p.His918del)
NM_012330.4(KAT6B):c.2753A>T (p.His918Leu)
NM_012330.4(KAT6B):c.2779A>G (p.Ile927Val)
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.2808T>G (p.His936Gln)
NM_012330.4(KAT6B):c.2812A>G (p.Ile938Val)
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) rs1845340492
NM_012330.4(KAT6B):c.2842A>T (p.Ile948Phe)
NM_012330.4(KAT6B):c.2869A>C (p.Ile957Leu)
NM_012330.4(KAT6B):c.2904G>A (p.Met968Ile)
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser) rs2548334531
NM_012330.4(KAT6B):c.304C>A (p.Leu102Ile) rs1206614644
NM_012330.4(KAT6B):c.3050G>T (p.Cys1017Phe)
NM_012330.4(KAT6B):c.310A>T (p.Asn104Tyr) rs1841861253
NM_012330.4(KAT6B):c.3155G>A (p.Arg1052Gln)
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del) rs765976563
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val) rs2549169829
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del) rs780405690
NM_012330.4(KAT6B):c.3258_3266del (p.Glu1087_Glu1089del) rs754801098
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.3409C>T (p.Arg1137Cys)
NM_012330.4(KAT6B):c.3418A>T (p.Ile1140Phe)
NM_012330.4(KAT6B):c.3485A>G (p.Asn1162Ser)
NM_012330.4(KAT6B):c.350G>T (p.Gly117Val)
NM_012330.4(KAT6B):c.3518A>G (p.Glu1173Gly) rs761285524
NM_012330.4(KAT6B):c.3574G>C (p.Ala1192Pro)
NM_012330.4(KAT6B):c.3604C>G (p.Gln1202Glu)
NM_012330.4(KAT6B):c.3629A>T (p.Asp1210Val)
NM_012330.4(KAT6B):c.3653A>C (p.Asp1218Ala)
NM_012330.4(KAT6B):c.3654C>A (p.Asp1218Glu)
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.3722C>G (p.Pro1241Arg)
NM_012330.4(KAT6B):c.3763G>A (p.Gly1255Ser) rs147574112
NM_012330.4(KAT6B):c.3949G>A (p.Ala1317Thr)
NM_012330.4(KAT6B):c.3962A>C (p.Gln1321Pro)
NM_012330.4(KAT6B):c.4052A>G (p.Glu1351Gly)
NM_012330.4(KAT6B):c.4062_4064del (p.Glu1368del) rs772530975
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del) rs2134237417
NM_012330.4(KAT6B):c.4153G>A (p.Ala1385Thr)
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del) rs745314195
NM_012330.4(KAT6B):c.4231G>C (p.Glu1411Gln)
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) rs779662050
NM_012330.4(KAT6B):c.4330C>G (p.Leu1444Val)
NM_012330.4(KAT6B):c.4406C>T (p.Ser1469Leu)
NM_012330.4(KAT6B):c.446A>T (p.Gln149Leu)
NM_012330.4(KAT6B):c.4599_4601del (p.Thr1534del)
NM_012330.4(KAT6B):c.4616C>G (p.Ser1539Cys)
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn) rs368252918
NM_012330.4(KAT6B):c.4752T>G (p.Ile1584Met)
NM_012330.4(KAT6B):c.4772G>A (p.Cys1591Tyr)
NM_012330.4(KAT6B):c.4885A>G (p.Ile1629Val) rs1273966358
NM_012330.4(KAT6B):c.4987G>C (p.Val1663Leu)
NM_012330.4(KAT6B):c.5068A>G (p.Met1690Val) rs775327432
NM_012330.4(KAT6B):c.5117A>G (p.Tyr1706Cys)
NM_012330.4(KAT6B):c.5169G>C (p.Gln1723His)
NM_012330.4(KAT6B):c.521T>C (p.Val174Ala)
NM_012330.4(KAT6B):c.5221A>G (p.Ser1741Gly) rs886047245
NM_012330.4(KAT6B):c.5230C>T (p.Pro1744Ser)
NM_012330.4(KAT6B):c.524A>G (p.Asn175Ser)
NM_012330.4(KAT6B):c.5251C>G (p.Pro1751Ala) rs772074863
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His) rs1329717155
NM_012330.4(KAT6B):c.5339A>C (p.Gln1780Pro)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5512G>A (p.Ala1838Thr)
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val) rs779320993
NM_012330.4(KAT6B):c.575C>T (p.Pro192Leu)
NM_012330.4(KAT6B):c.5839T>C (p.Ser1947Pro)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.5873C>G (p.Thr1958Ser)
NM_012330.4(KAT6B):c.5947A>C (p.Asn1983His)
NM_012330.4(KAT6B):c.5991G>A (p.Met1997Ile)
NM_012330.4(KAT6B):c.6047C>T (p.Thr2016Met)
NM_012330.4(KAT6B):c.6050C>T (p.Pro2017Leu)
NM_012330.4(KAT6B):c.6058C>T (p.Pro2020Ser) rs770958025
NM_012330.4(KAT6B):c.6109C>A (p.Pro2037Thr) rs202007260
NM_012330.4(KAT6B):c.6116A>G (p.Gln2039Arg)
NM_012330.4(KAT6B):c.6119C>T (p.Thr2040Ile)
NM_012330.4(KAT6B):c.6179G>C (p.Gly2060Ala)
NM_012330.4(KAT6B):c.698A>G (p.Glu233Gly)
NM_012330.4(KAT6B):c.77G>A (p.Arg26Lys)

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.