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: 360
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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.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.205-38C>T rs12850852 0.21650
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 0.00570
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.1663G>A (p.Gly555Arg) rs146395020 0.00107
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.307C>T (p.Arg103Cys) rs374549966 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.4036G>T (p.Asp1346Tyr) rs542036896 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.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.1927A>T (p.Met643Leu) rs778899637 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_005120.3(MED12):c.5873G>C (p.Gly1958Ala) rs762846340 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_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.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.1376C>T (p.Thr459Ile) rs2092292878 0.00001
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00001
NM_005120.3(MED12):c.3210-27C>T rs752463122 0.00001
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln) rs746705248 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.2116-9A>G rs747646395 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.5242G>A (p.Val1748Ile) rs774598396 0.00001
NM_012330.4(KAT6B):c.5335A>G (p.Met1779Val) rs772132735 0.00001
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) rs1037774698 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.1102-6T>C rs2519669678
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
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.3129del (p.Ser1044fs)
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.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
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) rs2519708968
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln) rs2147826230
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu) rs768875937
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys) rs769232520
NM_005120.3(MED12):c.6062_6094del (p.Leu2021_Thr2031del)
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.616C>T (p.Arg206Trp) 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.6352C>T (p.Gln2118Ter)
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del) rs2092347427
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_005120.3(MED12):c.6439C>T (p.Gln2147Ter)
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
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.101A>G (p.His34Arg)
NM_012330.4(KAT6B):c.1025T>A (p.Ile342Asn) rs182392778
NM_012330.4(KAT6B):c.1030C>T (p.Arg344Ter) rs1049569566
NM_012330.4(KAT6B):c.1040dup (p.Asn347fs)
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.130A>T (p.Lys44Ter) rs2548333540
NM_012330.4(KAT6B):c.1341T>G (p.Asp447Glu)
NM_012330.4(KAT6B):c.1351T>A (p.Ser451Thr)
NM_012330.4(KAT6B):c.1400A>C (p.Lys467Thr) rs2133723621
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.1675A>T (p.Lys559Ter) rs182593735
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+1G>A rs2133733164
NM_012330.4(KAT6B):c.1993+5G>A
NM_012330.4(KAT6B):c.1A>G (p.Met1Val) rs2548332680
NM_012330.4(KAT6B):c.2038A>T (p.Asn680Tyr)
NM_012330.4(KAT6B):c.2066C>T (p.Thr689Ile)
NM_012330.4(KAT6B):c.2154del (p.Tyr719fs) rs2548975716
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly) rs1842361320
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.2299C>T (p.His767Tyr) rs1589750251
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter) rs2548990073
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.2510del (p.Cys837fs) rs1842737894
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.2598G>A (p.Arg866=) rs1842975561
NM_012330.4(KAT6B):c.2623del (p.Asp875fs)
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.2963C>A (p.Thr988Asn) rs1845383523
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser) rs2548334531
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.3040C>T (p.Gln1014Ter) rs2134165472
NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) rs1589824355
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.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3155G>A (p.Arg1052Gln)
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) rs2549169772
NM_012330.4(KAT6B):c.3227A>T (p.Glu1076Val) rs2549169829
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3246del (p.Glu1083fs) rs2549170103
NM_012330.4(KAT6B):c.3249_3257del (p.Glu1087_Glu1089del) rs780405690
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) rs1554843880
NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) rs751215527
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.3295_3301del (p.Glu1099fs)
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs) rs2549171488
NM_012330.4(KAT6B):c.3372+2T>A
NM_012330.4(KAT6B):c.3409C>T (p.Arg1137Cys)
NM_012330.4(KAT6B):c.3418A>T (p.Ile1140Phe)
NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) rs1589831585
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.3606_3609del (p.Thr1203fs) rs1589832003
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.3664+1G>A rs1057516033
NM_012330.4(KAT6B):c.3664delA (p.Asn1222fs)
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser) rs2549196597
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.3775T>G (p.Trp1259Gly)
NM_012330.4(KAT6B):c.3887C>A (p.Ser1296Ter)
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.3949G>A (p.Ala1317Thr)
NM_012330.4(KAT6B):c.3962A>C (p.Gln1321Pro)
NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) rs863224883
NM_012330.4(KAT6B):c.3998dup (p.Ser1334fs) rs2549198858
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.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) rs754348627
NM_012330.4(KAT6B):c.4101_4103del (p.Glu1368del) rs2134237417
NM_012330.4(KAT6B):c.4153G>A (p.Ala1385Thr)
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.4231G>C (p.Glu1411Gln)
NM_012330.4(KAT6B):c.4237G>T (p.Glu1413Ter) rs1169094796
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg) rs779662050
NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) rs1589842816
NM_012330.4(KAT6B):c.4330C>G (p.Leu1444Val)
NM_012330.4(KAT6B):c.4391_4392del (p.Val1464fs) rs2134240152
NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) rs199470479
NM_012330.4(KAT6B):c.4406C>T (p.Ser1469Leu)
NM_012330.4(KAT6B):c.4461_4470del (p.Ser1487fs) rs2134240789
NM_012330.4(KAT6B):c.446A>T (p.Gln149Leu)
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) rs2549203895
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.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.4987G>C (p.Val1663Leu)
NM_012330.4(KAT6B):c.5014A>G (p.Ser1672Gly)
NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) rs387907364
NM_012330.4(KAT6B):c.5068A>G (p.Met1690Val) rs775327432
NM_012330.4(KAT6B):c.5117A>G (p.Tyr1706Cys)
NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) rs1589845386
NM_012330.4(KAT6B):c.5169G>C (p.Gln1723His)
NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) rs199470482
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.5254C>T (p.Gln1752Ter) rs924532501
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter) rs1554846300
NM_012330.4(KAT6B):c.5304G>T (p.Gln1768His) rs1329717155
NM_012330.4(KAT6B):c.5339A>C (p.Gln1780Pro)
NM_012330.4(KAT6B):c.5356G>T (p.Glu1786Ter) rs906740657
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.5426del (p.Pro1809fs)
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr) rs752572188
NM_012330.4(KAT6B):c.5512G>A (p.Ala1838Thr)
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala) rs2549212959
NM_012330.4(KAT6B):c.5646del (p.Asn1883fs) rs2549213434
NM_012330.4(KAT6B):c.5698A>G (p.Met1900Val) rs779320993
NM_012330.4(KAT6B):c.575C>T (p.Pro192Leu)
NM_012330.4(KAT6B):c.5762del (p.Gly1921fs) rs2549214778
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.5949C>A (p.Asn1983Lys) rs745470061
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)
NM_012330.4(KAT6B):c.847-2A>G rs1841745686

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