ClinVar Miner

List of variants reported as uncertain significance for Kabuki syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 342
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=) rs200940558 0.00006
NM_001291415.2(KDM6A):c.1736C>G (p.Pro579Arg) rs1032545459 0.00005
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His) rs369284316 0.00005
NM_001291415.2(KDM6A):c.49G>A (p.Ala17Thr) rs1018780128 0.00005
NM_001291415.2(KDM6A):c.1487A>G (p.Asn496Ser) rs768863219 0.00004
NM_001291415.2(KDM6A):c.1597C>T (p.Arg533Cys) rs375011484 0.00004
NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=) rs773682292 0.00004
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00004
NM_001291415.2(KDM6A):c.2327T>C (p.Ile776Thr) rs749563708 0.00004
NM_001291415.2(KDM6A):c.3541A>G (p.Met1181Val) rs2523249211 0.00004
NM_001291415.2(KDM6A):c.1097A>G (p.Asn366Ser) rs1335235998 0.00003
NM_001291415.2(KDM6A):c.1153A>G (p.Ser385Gly) rs762278314 0.00003
NM_001291415.2(KDM6A):c.1219G>A (p.Gly407Ser) rs1016586399 0.00003
NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp) rs923984398 0.00003
NM_001291415.2(KDM6A):c.1581+6T>C rs765678568 0.00003
NM_001291415.2(KDM6A):c.1730A>C (p.Asn577Thr) rs1359864920 0.00003
NM_001291415.2(KDM6A):c.1637T>C (p.Met546Thr) rs1282907228 0.00002
NM_001291415.2(KDM6A):c.1659G>T (p.Gln553His) rs750245702 0.00002
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His) rs763587293 0.00002
NM_001291415.2(KDM6A):c.1916G>A (p.Ser639Asn) rs962190659 0.00002
NM_001291415.2(KDM6A):c.2381C>T (p.Ala794Val) rs1298658636 0.00002
NM_001291415.2(KDM6A):c.2420C>T (p.Thr807Met) rs757564026 0.00002
NM_001291415.2(KDM6A):c.2428G>A (p.Ala810Thr) rs1006996188 0.00002
NM_001291415.2(KDM6A):c.2528A>G (p.Asn843Ser) rs951647317 0.00002
NM_001291415.2(KDM6A):c.2988C>T (p.Tyr996=) rs370510476 0.00002
NM_001291415.2(KDM6A):c.308A>G (p.Asn103Ser) rs749202669 0.00002
NM_001291415.2(KDM6A):c.3094+6C>T rs757184704 0.00002
NM_001291415.2(KDM6A):c.3589+5T>C rs972968488 0.00002
NM_001291415.2(KDM6A):c.359A>G (p.Tyr120Cys) rs754875167 0.00002
NM_001291415.2(KDM6A):c.3810C>A (p.Val1270=) rs1032649613 0.00002
NM_001291415.2(KDM6A):c.676G>C (p.Glu226Gln) rs2043859303 0.00002
NM_001291415.2(KDM6A):c.1043A>T (p.Asp348Val) rs1397939870 0.00001
NM_001291415.2(KDM6A):c.1178G>A (p.Arg393Gln) rs746746824 0.00001
NM_001291415.2(KDM6A):c.1194+6A>G rs368488468 0.00001
NM_001291415.2(KDM6A):c.1205G>A (p.Cys402Tyr) rs1238185412 0.00001
NM_001291415.2(KDM6A):c.137G>A (p.Arg46Lys) rs2031089050 0.00001
NM_001291415.2(KDM6A):c.1499A>G (p.Asn500Ser) rs2044279088 0.00001
NM_001291415.2(KDM6A):c.1576T>G (p.Leu526Val) rs749218008 0.00001
NM_001291415.2(KDM6A):c.1600G>A (p.Ala534Thr) rs1322780338 0.00001
NM_001291415.2(KDM6A):c.1711C>G (p.Arg571Gly) rs397514628 0.00001
NM_001291415.2(KDM6A):c.1712G>A (p.Arg571Gln) rs1459042930 0.00001
NM_001291415.2(KDM6A):c.1747T>C (p.Ser583Pro) rs1194941930 0.00001
NM_001291415.2(KDM6A):c.1762A>C (p.Asn588His) rs1290568312 0.00001
NM_001291415.2(KDM6A):c.1811G>C (p.Ser604Thr) rs1288512324 0.00001
NM_001291415.2(KDM6A):c.1835C>G (p.Pro612Arg) rs753928695 0.00001
NM_001291415.2(KDM6A):c.2044G>A (p.Glu682Lys) rs1423992975 0.00001
NM_001291415.2(KDM6A):c.2080G>T (p.Gly694Trp) rs2044718414 0.00001
NM_001291415.2(KDM6A):c.2116C>T (p.Pro706Ser) rs752105957 0.00001
NM_001291415.2(KDM6A):c.2233G>T (p.Gly745Trp) rs1044524871 0.00001
NM_001291415.2(KDM6A):c.2389G>A (p.Glu797Lys) rs2044738301 0.00001
NM_001291415.2(KDM6A):c.2410C>T (p.His804Tyr) rs753811835 0.00001
NM_001291415.2(KDM6A):c.2447A>G (p.His816Arg) rs772552174 0.00001
NM_001291415.2(KDM6A):c.2458A>G (p.Lys820Glu) rs2044742547 0.00001
NM_001291415.2(KDM6A):c.250A>G (p.Ile84Val) rs1373790479 0.00001
NM_001291415.2(KDM6A):c.2510T>C (p.Met837Thr) rs1167845073 0.00001
NM_001291415.2(KDM6A):c.2522A>G (p.Asn841Ser) rs747545667 0.00001
NM_001291415.2(KDM6A):c.2552A>G (p.Lys851Arg) rs767907912 0.00001
NM_001291415.2(KDM6A):c.2567A>T (p.His856Leu) rs1289852923 0.00001
NM_001291415.2(KDM6A):c.2731A>C (p.Met911Leu) rs1278570044 0.00001
NM_001291415.2(KDM6A):c.2740T>C (p.Ser914Pro) rs2148055101 0.00001
NM_001291415.2(KDM6A):c.2752A>C (p.Met918Leu) rs1357849621 0.00001
NM_001291415.2(KDM6A):c.2780A>G (p.His927Arg) rs2044758499 0.00001
NM_001291415.2(KDM6A):c.2821A>G (p.Ile941Val) rs748064342 0.00001
NM_001291415.2(KDM6A):c.2859G>T (p.Arg953Ser) rs1569536949 0.00001
NM_001291415.2(KDM6A):c.3115A>C (p.Lys1039Gln) rs765953991 0.00001
NM_001291415.2(KDM6A):c.3146T>C (p.Met1049Thr) rs202194372 0.00001
NM_001291415.2(KDM6A):c.3446A>G (p.Lys1149Arg) rs1446396167 0.00001
NM_001291415.2(KDM6A):c.3487C>T (p.Arg1163Cys) rs763592177 0.00001
NM_001291415.2(KDM6A):c.3493G>A (p.Val1165Ile) rs367925808 0.00001
NM_001291415.2(KDM6A):c.3748G>C (p.Glu1250Gln) rs1396565624 0.00001
NM_001291415.2(KDM6A):c.3920G>A (p.Arg1307Gln) rs1285728766 0.00001
NM_001291415.2(KDM6A):c.3992G>A (p.Arg1331Gln) rs1473353111 0.00001
NM_001291415.2(KDM6A):c.415G>A (p.Val139Ile) rs768230343 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
NM_001291415.2(KDM6A):c.4310A>T (p.Gln1437Leu) rs1472396434 0.00001
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg) rs758358984 0.00001
NM_001291415.2(KDM6A):c.54C>A (p.Phe18Leu) rs2031069174 0.00001
NM_001291415.2(KDM6A):c.583G>A (p.Val195Ile) rs374342798 0.00001
NM_001291415.2(KDM6A):c.593A>G (p.Asn198Ser) rs1324141100 0.00001
NM_001291415.2(KDM6A):c.643T>C (p.Tyr215His) rs1402339766 0.00001
NM_001291415.2(KDM6A):c.813G>C (p.Gln271His) rs140335606 0.00001
NM_001291415.2(KDM6A):c.857C>G (p.Ser286Cys) rs749431153 0.00001
NM_001291415.2(KDM6A):c.931A>G (p.Ile311Val) rs777683511 0.00001
NM_001291415.2(KDM6A):c.975-3C>T rs1569532980 0.00001
NC_000023.10:g.(?_44732798)_(44733253_?)dup
NC_000023.10:g.(?_44732798)_(44945244_?)dup
NC_000023.10:g.(?_44732798)_(44950129_?)dup
NC_000023.10:g.(?_44732798)_(44970656_?)dup
NC_000023.10:g.(?_44870186)_(44970656_?)dup
NC_000023.10:g.(?_44935922)_(44970656_?)dup
NM_001291415.2(KDM6A):c.1018G>T (p.Ala340Ser)
NM_001291415.2(KDM6A):c.101_102delinsTT (p.Ser34Ile) rs2519217214
NM_001291415.2(KDM6A):c.1044C>G (p.Asp348Glu)
NM_001291415.2(KDM6A):c.1054G>A (p.Ala352Thr)
NM_001291415.2(KDM6A):c.1057G>A (p.Ala353Thr)
NM_001291415.2(KDM6A):c.1079C>T (p.Thr360Ile) rs1281139041
NM_001291415.2(KDM6A):c.1085A>G (p.Tyr362Cys)
NM_001291415.2(KDM6A):c.1106A>C (p.Gln369Pro)
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) rs1335822460
NM_001291415.2(KDM6A):c.1115T>C (p.Ile372Thr) rs2044211918
NM_001291415.2(KDM6A):c.1148G>C (p.Ser383Thr) rs2147962802
NM_001291415.2(KDM6A):c.1151G>T (p.Cys384Phe) rs746139050
NM_001291415.2(KDM6A):c.115C>T (p.Pro39Ser)
NM_001291415.2(KDM6A):c.1160C>A (p.Thr387Asn) rs780021220
NM_001291415.2(KDM6A):c.1194+16G>A
NM_001291415.2(KDM6A):c.1194+4A>C rs2522772160
NM_001291415.2(KDM6A):c.1194+6A>C
NM_001291415.2(KDM6A):c.1194G>A (p.Gln398=) rs2522772115
NM_001291415.2(KDM6A):c.1195G>A (p.Ala399Thr) rs2522780431
NM_001291415.2(KDM6A):c.1214C>T (p.Pro405Leu) rs1556309489
NM_001291415.2(KDM6A):c.1259AGG[1] (p.Glu421del) rs2522781282
NM_001291415.2(KDM6A):c.1328A>G (p.Gln443Arg) rs2522782892
NM_001291415.2(KDM6A):c.13G>A (p.Gly5Arg)
NM_001291415.2(KDM6A):c.1436A>C (p.Asp479Ala) rs962357211
NM_001291415.2(KDM6A):c.1468A>G (p.Thr490Ala) rs1428483797
NM_001291415.2(KDM6A):c.1474A>T (p.Ser492Cys) rs1438320100
NM_001291415.2(KDM6A):c.1493C>G (p.Ser498Cys) rs2147974841
NM_001291415.2(KDM6A):c.1507G>A (p.Gly503Ser) rs766555965
NM_001291415.2(KDM6A):c.1529C>A (p.Pro510His) rs1217264930
NM_001291415.2(KDM6A):c.152G>C (p.Gly51Ala) rs1352040501
NM_001291415.2(KDM6A):c.152G>T (p.Gly51Val) rs1352040501
NM_001291415.2(KDM6A):c.1541A>C (p.Gln514Pro)
NM_001291415.2(KDM6A):c.1568C>T (p.Pro523Leu)
NM_001291415.2(KDM6A):c.1589A>G (p.Glu530Gly)
NM_001291415.2(KDM6A):c.1600G>T (p.Ala534Ser) rs1322780338
NM_001291415.2(KDM6A):c.1601C>G (p.Ala534Gly) rs2522833264
NM_001291415.2(KDM6A):c.1604A>G (p.Asn535Ser)
NM_001291415.2(KDM6A):c.161+4del
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser) rs2147985031
NM_001291415.2(KDM6A):c.1636A>T (p.Met546Leu) rs2522834148
NM_001291415.2(KDM6A):c.163C>T (p.Arg55Cys) rs1234030940
NM_001291415.2(KDM6A):c.1658A>C (p.Gln553Pro)
NM_001291415.2(KDM6A):c.1660T>C (p.Phe554Leu) rs2044353947
NM_001291415.2(KDM6A):c.1678C>A (p.His560Asn)
NM_001291415.2(KDM6A):c.1702G>C (p.Ala568Pro)
NM_001291415.2(KDM6A):c.1703C>T (p.Ala568Val)
NM_001291415.2(KDM6A):c.1712G>C (p.Arg571Pro) rs1459042930
NM_001291415.2(KDM6A):c.1730A>G (p.Asn577Ser) rs1359864920
NM_001291415.2(KDM6A):c.1738A>G (p.Thr580Ala)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile) rs1340911940
NM_001291415.2(KDM6A):c.1744_1746dup (p.Asp582_Ser583insAsp) rs2522851921
NM_001291415.2(KDM6A):c.177C>G (p.Phe59Leu) rs1294014005
NM_001291415.2(KDM6A):c.1829T>C (p.Val610Ala) rs2147993312
NM_001291415.2(KDM6A):c.1831C>T (p.Arg611Cys)
NM_001291415.2(KDM6A):c.1837G>A (p.Ala613Thr) rs751034422
NM_001291415.2(KDM6A):c.1883A>G (p.His628Arg)
NM_001291415.2(KDM6A):c.1912G>A (p.Gly638Arg)
NM_001291415.2(KDM6A):c.1918A>G (p.Thr640Ala) rs2044400766
NM_001291415.2(KDM6A):c.1965T>G (p.Ser655Arg)
NM_001291415.2(KDM6A):c.1972A>G (p.Asn658Asp) rs2147997466
NM_001291415.2(KDM6A):c.1988A>G (p.Gln663Arg) rs2147997960
NM_001291415.2(KDM6A):c.1996G>T (p.Ala666Ser) rs931403834
NM_001291415.2(KDM6A):c.1999C>T (p.Leu667Phe)
NM_001291415.2(KDM6A):c.200C>T (p.Ala67Val) rs2031156846
NM_001291415.2(KDM6A):c.2018G>C (p.Arg673Pro) rs369284316
NM_001291415.2(KDM6A):c.2032A>G (p.Ser678Gly) rs2522872299
NM_001291415.2(KDM6A):c.2038G>A (p.Ala680Thr) rs747505929
NM_001291415.2(KDM6A):c.2048C>T (p.Pro683Leu) rs781221250
NM_001291415.2(KDM6A):c.2065T>C (p.Ser689Pro) rs2148000339
NM_001291415.2(KDM6A):c.2069A>G (p.Asn690Ser) rs2044408983
NM_001291415.2(KDM6A):c.2089A>G (p.Lys697Glu) rs2148034165
NM_001291415.2(KDM6A):c.2090A>G (p.Lys697Arg) rs2148034200
NM_001291415.2(KDM6A):c.2097G>C (p.Gln699His)
NM_001291415.2(KDM6A):c.2114G>A (p.Gly705Asp)
NM_001291415.2(KDM6A):c.2161C>T (p.Leu721Phe)
NM_001291415.2(KDM6A):c.2170G>A (p.Ala724Thr) rs2522969281
NM_001291415.2(KDM6A):c.2174G>A (p.Gly725Asp) rs2148036545
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu) rs2522970040
NM_001291415.2(KDM6A):c.2197G>A (p.Gly733Arg) rs2148037200
NM_001291415.2(KDM6A):c.2239G>T (p.Ala747Ser)
NM_001291415.2(KDM6A):c.225+4dup rs2519224805
NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe) rs2148039110
NM_001291415.2(KDM6A):c.2269A>G (p.Thr757Ala) rs2148039825
NM_001291415.2(KDM6A):c.2282A>G (p.Gln761Arg) rs1318537707
NM_001291415.2(KDM6A):c.2284C>A (p.Gln762Lys) rs1358181248
NM_001291415.2(KDM6A):c.2290A>T (p.Ile764Phe)
NM_001291415.2(KDM6A):c.2302A>G (p.Lys768Glu) rs1307070516
NM_001291415.2(KDM6A):c.2305G>A (p.Glu769Lys)
NM_001291415.2(KDM6A):c.2320G>C (p.Gly774Arg) rs777691528
NM_001291415.2(KDM6A):c.2338C>T (p.Pro780Ser)
NM_001291415.2(KDM6A):c.233G>A (p.Arg78His)
NM_001291415.2(KDM6A):c.2345C>G (p.Thr782Arg) rs775630807
NM_001291415.2(KDM6A):c.2405A>G (p.His802Arg)
NM_001291415.2(KDM6A):c.2408T>A (p.Val803Asp) rs113891421
NM_001291415.2(KDM6A):c.2411A>G (p.His804Arg) rs2044739718
NM_001291415.2(KDM6A):c.2426A>T (p.Asp809Val) rs747485801
NM_001291415.2(KDM6A):c.2432T>C (p.Val811Ala) rs190755933
NM_001291415.2(KDM6A):c.2461T>C (p.Ser821Pro) rs112807182
NM_001291415.2(KDM6A):c.2467G>T (p.Gly823Cys)
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro) rs1443923618
NM_001291415.2(KDM6A):c.2488C>G (p.Pro830Ala) rs2148047387
NM_001291415.2(KDM6A):c.2494C>G (p.Leu832Val) rs1429606535
NM_001291415.2(KDM6A):c.2498C>G (p.Ser833Cys)
NM_001291415.2(KDM6A):c.2527A>G (p.Asn843Asp) rs2044746949
NM_001291415.2(KDM6A):c.2532G>A (p.Val844=)
NM_001291415.2(KDM6A):c.2534G>A (p.Gly845Asp) rs2148048724
NM_001291415.2(KDM6A):c.2543C>T (p.Thr848Ile) rs1218269593
NM_001291415.2(KDM6A):c.2572G>A (p.Ala858Thr)
NM_001291415.2(KDM6A):c.2579A>G (p.His860Arg) rs2044749099
NM_001291415.2(KDM6A):c.2584A>G (p.Lys862Glu) rs2148050387
NM_001291415.2(KDM6A):c.25G>C (p.Ala9Pro) rs2146440966
NM_001291415.2(KDM6A):c.2614T>G (p.Ser872Ala)
NM_001291415.2(KDM6A):c.2623A>G (p.Ile875Val)
NM_001291415.2(KDM6A):c.2701A>T (p.Ser901Cys) rs2148054179
NM_001291415.2(KDM6A):c.2702G>A (p.Ser901Asn) rs2148054210
NM_001291415.2(KDM6A):c.2720A>G (p.Asn907Ser) rs2148054635
NM_001291415.2(KDM6A):c.2726A>G (p.Glu909Gly) rs2523007951
NM_001291415.2(KDM6A):c.2748C>G (p.Ser916Arg) rs2148055355
NM_001291415.2(KDM6A):c.2815G>A (p.Val939Met) rs2148057316
NM_001291415.2(KDM6A):c.2831G>T (p.Ser944Ile) rs938370546
NM_001291415.2(KDM6A):c.2885A>C (p.Asn962Thr)
NM_001291415.2(KDM6A):c.2890A>G (p.Ser964Gly) rs768947967
NM_001291415.2(KDM6A):c.2891G>A (p.Ser964Asn) rs777101877
NM_001291415.2(KDM6A):c.28_39del (p.Thr10_Ala13del) rs769370817
NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup) rs769370817
NM_001291415.2(KDM6A):c.28_42dup (p.Thr10_Ala14dup) rs2146441027
NM_001291415.2(KDM6A):c.2902G>A (p.Asp968Asn) rs2148101496
NM_001291415.2(KDM6A):c.2915C>T (p.Pro972Leu) rs2148101706
NM_001291415.2(KDM6A):c.2939A>G (p.Tyr980Cys)
NM_001291415.2(KDM6A):c.2957A>G (p.Asp986Gly) rs2523117656
NM_001291415.2(KDM6A):c.2987dup (p.Tyr996Ter) rs2148102838
NM_001291415.2(KDM6A):c.3001C>T (p.Arg1001Cys)
NM_001291415.2(KDM6A):c.3074T>C (p.Leu1025Pro) rs2523143245
NM_001291415.2(KDM6A):c.3095-6A>G rs2148117604
NM_001291415.2(KDM6A):c.30CGC[2] (p.Ala17del)
NM_001291415.2(KDM6A):c.3101G>C (p.Gly1034Ala) rs2148117859
NM_001291415.2(KDM6A):c.3103C>T (p.Leu1035Phe) rs2148117916
NM_001291415.2(KDM6A):c.3112A>T (p.Thr1038Ser)
NM_001291415.2(KDM6A):c.3117A>G (p.Lys1039=)
NM_001291415.2(KDM6A):c.3122T>C (p.Leu1041Ser) rs2148118256
NM_001291415.2(KDM6A):c.3124G>A (p.Val1042Met)
NM_001291415.2(KDM6A):c.3136_3137delinsCG (p.Asn1046Arg) rs2523159434
NM_001291415.2(KDM6A):c.3154G>T (p.Val1052Leu)
NM_001291415.2(KDM6A):c.3164A>C (p.Gln1055Pro)
NM_001291415.2(KDM6A):c.3206C>G (p.Thr1069Arg) rs754171997
NM_001291415.2(KDM6A):c.322G>A (p.Asp108Asn) rs1569484132
NM_001291415.2(KDM6A):c.3230G>A (p.Ser1077Asn)
NM_001291415.2(KDM6A):c.3277T>G (p.Ser1093Ala) rs2045280727
NM_001291415.2(KDM6A):c.3301G>A (p.Glu1101Lys) rs1271555870
NM_001291415.2(KDM6A):c.3309T>G (p.Asn1103Lys) rs2523219171
NM_001291415.2(KDM6A):c.3315AAG[1] (p.Arg1106del) rs750891389
NM_001291415.2(KDM6A):c.3325C>T (p.His1109Tyr) rs2523219684
NM_001291415.2(KDM6A):c.3347A>C (p.Glu1116Ala) rs2045465388
NM_001291415.2(KDM6A):c.3356C>T (p.Ser1119Leu) rs2045466032
NM_001291415.2(KDM6A):c.3361G>T (p.Asp1121Tyr)
NM_001291415.2(KDM6A):c.3365+2dup rs2523221009
NM_001291415.2(KDM6A):c.3371GGA[5] (p.Arg1127dup) rs1569538311
NM_001291415.2(KDM6A):c.3377G>A (p.Arg1126Lys)
NM_001291415.2(KDM6A):c.3380G>A (p.Arg1127Lys) rs1008156342
NM_001291415.2(KDM6A):c.3382A>G (p.Lys1128Glu)
NM_001291415.2(KDM6A):c.3407T>C (p.Phe1136Ser) rs1273141883
NM_001291415.2(KDM6A):c.3416A>G (p.Asn1139Ser)
NM_001291415.2(KDM6A):c.341C>T (p.Ser114Phe) rs767039378
NM_001291415.2(KDM6A):c.3437A>G (p.Lys1146Arg)
NM_001291415.2(KDM6A):c.3478G>C (p.Ala1160Pro) rs2045511008
NM_001291415.2(KDM6A):c.3479C>T (p.Ala1160Val) rs2148151541
NM_001291415.2(KDM6A):c.3484G>T (p.Val1162Leu)
NM_001291415.2(KDM6A):c.3488G>A (p.Arg1163His) rs1457797612
NM_001291415.2(KDM6A):c.3521T>C (p.Val1174Ala) rs2045512597
NM_001291415.2(KDM6A):c.3530C>T (p.Thr1177Ile) rs2148152876
NM_001291415.2(KDM6A):c.3535T>A (p.Leu1179Met)
NM_001291415.2(KDM6A):c.3584C>T (p.Thr1195Ile) rs2148154497
NM_001291415.2(KDM6A):c.35C>G (p.Ala12Gly)
NM_001291415.2(KDM6A):c.3611T>G (p.Phe1204Cys) rs2523281794
NM_001291415.2(KDM6A):c.3613T>C (p.Cys1205Arg) rs1602965199
NM_001291415.2(KDM6A):c.3654G>C (p.Trp1218Cys) rs1325144068
NM_001291415.2(KDM6A):c.3710A>G (p.Asn1237Ser) rs2148191692
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.3755T>C (p.Leu1252Pro)
NM_001291415.2(KDM6A):c.3762A>C (p.Glu1254Asp) rs2148193015
NM_001291415.2(KDM6A):c.377A>C (p.Tyr126Ser)
NM_001291415.2(KDM6A):c.37G>A (p.Ala13Thr)
NM_001291415.2(KDM6A):c.3826A>G (p.Thr1276Ala)
NM_001291415.2(KDM6A):c.3838G>C (p.Val1280Leu) rs1171103101
NM_001291415.2(KDM6A):c.3851G>A (p.Gly1284Asp) rs2148195260
NM_001291415.2(KDM6A):c.3859A>G (p.Asn1287Asp) rs1351197434
NM_001291415.2(KDM6A):c.3886C>T (p.Leu1296Phe) rs2523335532
NM_001291415.2(KDM6A):c.3887T>C (p.Leu1296Pro) rs2148196134
NM_001291415.2(KDM6A):c.3907T>A (p.Leu1303Met) rs751482993
NM_001291415.2(KDM6A):c.3910G>T (p.Ala1304Ser) rs2045860597
NM_001291415.2(KDM6A):c.39_41dup (p.Ala17_Phe18insAla) rs1354071758
NM_001291415.2(KDM6A):c.39_44dup (p.Ala17_Phe18insAlaAla) rs1569312792
NM_001291415.2(KDM6A):c.400T>C (p.Tyr134His) rs2041728428
NM_001291415.2(KDM6A):c.4033A>G (p.Lys1345Glu) rs2523355238
NM_001291415.2(KDM6A):c.4035G>A (p.Lys1345=) rs748921036
NM_001291415.2(KDM6A):c.4055T>A (p.Leu1352Gln)
NM_001291415.2(KDM6A):c.4058A>G (p.Lys1353Arg) rs2148288019
NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe) rs2521643255
NM_001291415.2(KDM6A):c.4087A>G (p.Ile1363Val) rs2148288652
NM_001291415.2(KDM6A):c.4088T>A (p.Ile1363Asn) rs763097875
NM_001291415.2(KDM6A):c.4100A>G (p.Lys1367Arg) rs2046573753
NM_001291415.2(KDM6A):c.4110A>G (p.Ile1370Met) rs2148289097
NM_001291415.2(KDM6A):c.4130A>G (p.Glu1377Gly)
NM_001291415.2(KDM6A):c.4148G>A (p.Cys1383Tyr) rs2148289888
NM_001291415.2(KDM6A):c.4151G>A (p.Ser1384Asn) rs1296096294
NM_001291415.2(KDM6A):c.4192A>T (p.Asn1398Tyr)
NM_001291415.2(KDM6A):c.4194T>G (p.Asn1398Lys)
NM_001291415.2(KDM6A):c.4222G>A (p.Val1408Ile) rs2148305714
NM_001291415.2(KDM6A):c.4233A>C (p.Gln1411His) rs2148306052
NM_001291415.2(KDM6A):c.4235A>G (p.Asp1412Gly) rs759721484
NM_001291415.2(KDM6A):c.4265A>C (p.Glu1422Ala) rs2046714547
NM_001291415.2(KDM6A):c.4276G>T (p.Val1426Leu) rs2148306999
NM_001291415.2(KDM6A):c.42CGC[1] (p.Ala16_Ala17del)
NM_001291415.2(KDM6A):c.4307T>C (p.Met1436Thr)
NM_001291415.2(KDM6A):c.4329A>G (p.Thr1443=) rs2523578507
NM_001291415.2(KDM6A):c.4332+10A>G
NM_001291415.2(KDM6A):c.4332+9A>C rs761443094
NM_001291415.2(KDM6A):c.4334C>T (p.Ala1445Val) rs2523593267
NM_001291415.2(KDM6A):c.4339C>G (p.Pro1447Ala)
NM_001291415.2(KDM6A):c.43G>A (p.Ala15Thr) rs2031064287
NM_001291415.2(KDM6A):c.47C>G (p.Ala16Gly) rs1007509134
NM_001291415.2(KDM6A):c.521G>T (p.Gly174Val)
NM_001291415.2(KDM6A):c.526A>T (p.Met176Leu)
NM_001291415.2(KDM6A):c.548A>G (p.Tyr183Cys) rs2147668401
NM_001291415.2(KDM6A):c.563A>G (p.Lys188Arg) rs1569521751
NM_001291415.2(KDM6A):c.565-5T>G
NM_001291415.2(KDM6A):c.605T>C (p.Leu202Ser) rs2522215389
NM_001291415.2(KDM6A):c.606G>T (p.Leu202Phe)
NM_001291415.2(KDM6A):c.610A>G (p.Asn204Asp) rs2522215898
NM_001291415.2(KDM6A):c.613G>T (p.Ala205Ser) rs2147777442
NM_001291415.2(KDM6A):c.619+11T>G rs2147777658
NM_001291415.2(KDM6A):c.619+5G>A rs2147777563
NM_001291415.2(KDM6A):c.644A>G (p.Tyr215Cys)
NM_001291415.2(KDM6A):c.655-9G>T
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291415.2(KDM6A):c.660A>T (p.Lys220Asn) rs587778423
NM_001291415.2(KDM6A):c.696G>T (p.Leu232Phe) rs777629156
NM_001291415.2(KDM6A):c.69G>T (p.Lys23Asn) rs2031074739
NM_001291415.2(KDM6A):c.721G>A (p.Val241Ile)
NM_001291415.2(KDM6A):c.727G>A (p.Ala243Thr) rs2147917312
NM_001291415.2(KDM6A):c.748+4T>C rs776667031
NM_001291415.2(KDM6A):c.754A>C (p.Met252Leu)
NM_001291415.2(KDM6A):c.784A>G (p.Lys262Glu)
NM_001291415.2(KDM6A):c.787G>A (p.Ala263Thr) rs1465655869
NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.2(KDM6A):c.876G>A (p.Arg292=) rs2522752194
NM_001291415.2(KDM6A):c.883T>G (p.Ser295Ala) rs755266795
NM_001291415.2(KDM6A):c.887G>A (p.Ser296Asn) rs2147956013
NM_001291415.2(KDM6A):c.913A>G (p.Ile305Val) rs2044200158
NM_001291415.2(KDM6A):c.95G>A (p.Gly32Asp)
NM_001291415.2(KDM6A):c.970A>G (p.Ile324Val) rs2522757348
NM_001291415.2(KDM6A):c.975T>C (p.Gly325=) rs2522761565

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