ClinVar Miner

List of variants in gene KDM6A studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 376
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.749-22T>A rs5952285 0.23003
NM_001291415.2(KDM6A):c.443+273T>C rs5952284 0.22916
NM_001291415.2(KDM6A):c.3892+109A>T rs5952675 0.22852
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_001291415.2(KDM6A):c.1684-221T>C rs5905423 0.22643
NM_001291415.2(KDM6A):c.3705-292A>G rs111768868 0.22548
NM_001291415.2(KDM6A):c.1485+59A>G rs3788869 0.17827
NM_001291415.2(KDM6A):c.654+251G>A rs112449640 0.17687
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_001291415.2(KDM6A):c.335-85T>C rs112536942 0.13441
NM_001291415.2(KDM6A):c.876-140T>C rs112629411 0.09240
NM_001291415.2(KDM6A):c.226-226A>G rs7878293 0.07652
NM_001291415.2(KDM6A):c.2859-16T>C rs778778940 0.05699
NM_001291415.2(KDM6A):c.620-53C>T rs113358239 0.05092
NM_001291415.2(KDM6A):c.4034+257A>G rs113066387 0.05016
NM_001291415.2(KDM6A):c.1683+243G>C rs111732223 0.04165
NM_001291415.2(KDM6A):c.3301-188C>T rs113286395 0.04157
NM_001291415.2(KDM6A):c.3301-247G>A rs111868449 0.04124
NM_001291415.2(KDM6A):c.3590-198G>A rs112134503 0.04098
NM_001291415.2(KDM6A):c.1581+283G>A rs111485648 0.04085
NM_001291415.2(KDM6A):c.749-287T>C rs113402110 0.04065
NM_001291415.2(KDM6A):c.1581+127T>C rs12011925 0.03932
NM_001291415.2(KDM6A):c.3893-240T>C rs111560218 0.03050
NM_001291415.2(KDM6A):c.3892+144A>G rs148328646 0.02613
NC_000023.11:g.44872897A>C rs184602124 0.01893
NM_001291415.2(KDM6A):c.225+96A>G rs148841559 0.01716
NM_001291415.2(KDM6A):c.226-314C>A rs17244990 0.01011
NM_001291415.2(KDM6A):c.3300+22A>T rs183816914 0.00924
NM_001291415.2(KDM6A):c.2079+245A>C rs112389392 0.00912
NM_001291415.2(KDM6A):c.2989-94A>G rs111402519 0.00902
NM_001291415.2(KDM6A):c.3301-282G>A rs112279380 0.00895
NM_001291415.2(KDM6A):c.3704+268A>G rs73493113 0.00802
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val) rs112725812 0.00712
NM_001291415.2(KDM6A):c.2859-17T>C rs201108448 0.00674
NM_001291415.2(KDM6A):c.3300+183T>C rs780513847 0.00655
NM_001291415.2(KDM6A):c.2859-261C>T rs17147090 0.00627
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala) rs34922269 0.00625
NM_001291415.2(KDM6A):c.225+205T>G rs189569625 0.00625
NM_001291415.2(KDM6A):c.1194+69G>A rs190492255 0.00555
NM_001291415.2(KDM6A):c.3893-248G>A rs141486246 0.00478
NM_001291415.2(KDM6A):c.1582-339G>A rs58458471 0.00460
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001291415.2(KDM6A):c.620-279T>C rs183857364 0.00435
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001291415.2(KDM6A):c.3300+250T>C rs192865337 0.00401
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_001291415.2(KDM6A):c.2859-5T>C rs747739852 0.00254
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_001291415.2(KDM6A):c.*35G>C rs12009027 0.00152
NM_001291415.2(KDM6A):c.564+44G>T rs192646832 0.00114
NM_001291415.2(KDM6A):c.3441-326A>G rs776253580 0.00101
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_001291415.2(KDM6A):c.655-23A>G rs374931979 0.00070
NM_001291415.2(KDM6A):c.875+41C>G rs144429700 0.00063
NM_001291415.2(KDM6A):c.-50C>G rs768056637 0.00062
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001291415.2(KDM6A):c.334+30A>T rs372038661 0.00040
NM_001291415.2(KDM6A):c.3094+36C>A rs191455450 0.00037
NM_001291415.2(KDM6A):c.3300+31G>A rs372984835 0.00037
NM_001291415.2(KDM6A):c.3590-44A>G rs186458657 0.00034
NM_001291415.2(KDM6A):c.3301-16T>G rs201370572 0.00030
NM_001291415.2(KDM6A):c.1477C>A (p.Pro493Thr) rs760590669 0.00028
NM_001291415.2(KDM6A):c.2487T>A (p.Asn829Lys) rs148434372 0.00026
NM_001291415.2(KDM6A):c.1486-35T>C rs190722013 0.00023
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) rs147633358 0.00021
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser) rs200638114 0.00020
NM_001291415.2(KDM6A):c.2421G>A (p.Thr807=) rs374758648 0.00015
NM_001291415.2(KDM6A):c.2900T>C (p.Leu967Ser) rs199761905 0.00015
NM_001291415.2(KDM6A):c.1581+22A>G rs745571937 0.00013
NM_001291415.2(KDM6A):c.3892+22A>T rs200109678 0.00013
NM_001291415.2(KDM6A):c.619+30A>G rs147539115 0.00012
NM_001291415.2(KDM6A):c.3095-18A>G rs775747385 0.00011
NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile) rs368984079 0.00010
NM_001291415.2(KDM6A):c.444-7C>T rs375045349 0.00008
NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=) rs776420271 0.00007
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=) rs200940558 0.00007
NM_001291415.2(KDM6A):c.1948A>G (p.Ile650Val) rs762004743 0.00006
NM_001291415.2(KDM6A):c.1363G>A (p.Val455Ile) rs1247978055 0.00005
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.2329T>C (p.Leu777=) rs757380047 0.00005
NM_001291415.2(KDM6A):c.2502C>T (p.Ala834=) rs965420348 0.00005
NM_001291415.2(KDM6A):c.443+17C>T rs765379617 0.00005
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=) rs781105490 0.00004
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) rs370883451 0.00004
NM_001291415.2(KDM6A):c.1677A>C (p.Gln559His) rs763587293 0.00003
NM_001291415.2(KDM6A):c.2017C>T (p.Arg673Cys) rs139486036 0.00003
NM_001291415.2(KDM6A):c.2180G>A (p.Gly727Asp) rs759576784 0.00003
NM_001291415.2(KDM6A):c.2637A>G (p.Thr879=) rs774419812 0.00003
NM_001291415.2(KDM6A):c.384+10C>T rs767711383 0.00003
NM_001291415.2(KDM6A):c.654+18T>C rs761988382 0.00003
NM_001291415.2(KDM6A):c.1637T>C (p.Met546Thr) rs1282907228 0.00002
NM_001291415.2(KDM6A):c.203G>C (p.Arg68Thr) rs751146386 0.00002
NM_001291415.2(KDM6A):c.2306A>C (p.Glu769Ala) rs887019370 0.00002
NM_001291415.2(KDM6A):c.2355C>T (p.His785=) rs775969133 0.00002
NM_001291415.2(KDM6A):c.2378C>T (p.Thr793Ile) rs200940701 0.00002
NM_001291415.2(KDM6A):c.2436C>T (p.Cys812=) rs144511145 0.00002
NM_001291415.2(KDM6A):c.2629A>G (p.Thr877Ala) rs140562248 0.00002
NM_001291415.2(KDM6A):c.4038T>C (p.Tyr1346=) rs756881348 0.00002
NM_001291415.2(KDM6A):c.4217A>G (p.Tyr1406Cys) rs375096245 0.00002
NM_001291415.2(KDM6A):c.643T>C (p.Tyr215His) rs1402339766 0.00002
NM_001291415.2(KDM6A):c.749-24A>T rs202112465 0.00002
NM_001291415.2(KDM6A):c.1178G>A (p.Arg393Gln) rs746746824 0.00001
NM_001291415.2(KDM6A):c.1485+3A>G rs1020731573 0.00001
NM_001291415.2(KDM6A):c.1711C>G (p.Arg571Gly) rs397514628 0.00001
NM_001291415.2(KDM6A):c.1757C>G (p.Pro586Arg) rs1382986470 0.00001
NM_001291415.2(KDM6A):c.1862A>G (p.Asn621Ser) rs757754192 0.00001
NM_001291415.2(KDM6A):c.2044G>A (p.Glu682Lys) rs1423992975 0.00001
NM_001291415.2(KDM6A):c.222C>G (p.Gly74=) rs1042038341 0.00001
NM_001291415.2(KDM6A):c.2356A>G (p.Thr786Ala) rs761551642 0.00001
NM_001291415.2(KDM6A):c.2410C>T (p.His804Tyr) rs753811835 0.00001
NM_001291415.2(KDM6A):c.2567A>T (p.His856Leu) rs1289852923 0.00001
NM_001291415.2(KDM6A):c.3146T>C (p.Met1049Thr) rs202194372 0.00001
NM_001291415.2(KDM6A):c.3348A>G (p.Glu1116=) rs375622972 0.00001
NM_001291415.2(KDM6A):c.3354A>G (p.Thr1118=) rs727503976 0.00001
NM_001291415.2(KDM6A):c.3366-1G>A rs1374292312 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.620-37T>C rs769602727 0.00001
NM_001291415.2(KDM6A):c.620-39A>G rs531162259 0.00001
NM_001291415.2(KDM6A):c.706A>C (p.Asn236His) rs780484731 0.00001
NM_001291415.2(KDM6A):c.857C>G (p.Ser286Cys) rs749431153 0.00001
NM_001291415.2(KDM6A):c.871G>A (p.Gly291Arg) rs773995635 0.00001
GRCh37/hg19 Xp11.3(chrX:44715970-44741826)x0
GRCh37/hg19 Xp11.3(chrX:44773319-44909637)x1
GRCh37/hg19 Xp11.3(chrX:44820529-44950109)x3
GRCh37/hg19 Xp11.3(chrX:44869652-44995081)x3
NM_001291415.2(KDM6A):c.-182GCC[7] rs762577042
NM_001291415.2(KDM6A):c.-182GCC[8] rs762577042
NM_001291415.2(KDM6A):c.1015C>G (p.Gln339Glu)
NM_001291415.2(KDM6A):c.101G>C (p.Ser34Thr)
NM_001291415.2(KDM6A):c.1058C>T (p.Ala353Val) rs2147960836
NM_001291415.2(KDM6A):c.1079C>T (p.Thr360Ile)
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) rs1335822460
NM_001291415.2(KDM6A):c.1130A>G (p.Asn377Ser)
NM_001291415.2(KDM6A):c.1205G>A (p.Cys402Tyr)
NM_001291415.2(KDM6A):c.1214C>T (p.Pro405Leu) rs1556309489
NM_001291415.2(KDM6A):c.1285G>A (p.Ala429Thr)
NM_001291415.2(KDM6A):c.130G>C (p.Glu44Gln)
NM_001291415.2(KDM6A):c.1324C>A (p.Gln442Lys) rs2147966757
NM_001291415.2(KDM6A):c.1329+7A>G rs1602791405
NM_001291415.2(KDM6A):c.1333T>C (p.Cys445Arg)
NM_001291415.2(KDM6A):c.133G>C (p.Glu45Gln)
NM_001291415.2(KDM6A):c.1376_1379del (p.Ser459fs) rs2147969350
NM_001291415.2(KDM6A):c.142G>T (p.Ala48Ser)
NM_001291415.2(KDM6A):c.1462A>C (p.Lys488Gln)
NM_001291415.2(KDM6A):c.1468A>G (p.Thr490Ala) rs1428483797
NM_001291415.2(KDM6A):c.1474A>G (p.Ser492Gly)
NM_001291415.2(KDM6A):c.1475G>T (p.Ser492Ile) rs2147969832
NM_001291415.2(KDM6A):c.1514A>G (p.His505Arg)
NM_001291415.2(KDM6A):c.1515T>A (p.His505Gln) rs2147975479
NM_001291415.2(KDM6A):c.1572G>A (p.Gln524=)
NM_001291415.2(KDM6A):c.1579C>T (p.Gln527Ter) rs2044282736
NM_001291415.2(KDM6A):c.1581+1G>A
NM_001291415.2(KDM6A):c.1581+1G>T rs1602799769
NM_001291415.2(KDM6A):c.1581+88_1581+90dup rs1161774144
NM_001291415.2(KDM6A):c.1581+89_1581+90dup rs1161774144
NM_001291415.2(KDM6A):c.1581+90del rs1161774144
NM_001291415.2(KDM6A):c.1581+90dup rs1161774144
NM_001291415.2(KDM6A):c.1598G>A (p.Arg533His)
NM_001291415.2(KDM6A):c.1638G>A (p.Met546Ile)
NM_001291415.2(KDM6A):c.1683+1G>A rs1569533871
NM_001291415.2(KDM6A):c.1706A>T (p.Gln569Leu)
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1712G>A (p.Arg571Gln)
NM_001291415.2(KDM6A):c.1747T>C (p.Ser583Pro) rs1194941930
NM_001291415.2(KDM6A):c.1762A>C (p.Asn588His)
NM_001291415.2(KDM6A):c.1766C>T (p.Ser589Leu)
NM_001291415.2(KDM6A):c.1835C>T (p.Pro612Leu)
NM_001291415.2(KDM6A):c.1904G>A (p.Arg635Lys)
NM_001291415.2(KDM6A):c.1908G>A (p.Thr636=)
NM_001291415.2(KDM6A):c.1936G>A (p.Gly646Ser)
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.1997C>T (p.Ala666Val)
NM_001291415.2(KDM6A):c.2021C>A (p.Thr674Lys) rs1057524607
NM_001291415.2(KDM6A):c.2060A>C (p.Gln687Pro)
NM_001291415.2(KDM6A):c.2067_2074del (p.Asn690fs) rs1602822117
NM_001291415.2(KDM6A):c.2069A>C (p.Asn690Thr)
NM_001291415.2(KDM6A):c.2079+14T>C rs1972307267
NM_001291415.2(KDM6A):c.2079+1G>T rs2044409446
NM_001291415.2(KDM6A):c.20C>G (p.Ser7Trp) rs770931883
NM_001291415.2(KDM6A):c.2111C>T (p.Ala704Val)
NM_001291415.2(KDM6A):c.211G>A (p.Ala71Thr)
NM_001291415.2(KDM6A):c.2123G>C (p.Gly708Ala)
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001291415.2(KDM6A):c.2140T>C (p.Ser714Pro) rs1569535415
NM_001291415.2(KDM6A):c.2170G>A (p.Ala724Thr)
NM_001291415.2(KDM6A):c.2185C>G (p.Gln729Glu)
NM_001291415.2(KDM6A):c.221G>T (p.Gly74Val) rs2146448681
NM_001291415.2(KDM6A):c.2225T>A (p.Val742Glu)
NM_001291415.2(KDM6A):c.2233G>A (p.Gly745Arg)
NM_001291415.2(KDM6A):c.2234G>T (p.Gly745Val)
NM_001291415.2(KDM6A):c.225+5G>A
NM_001291415.2(KDM6A):c.2251C>T (p.Leu751Phe) rs2148039110
NM_001291415.2(KDM6A):c.2269A>G (p.Thr757Ala)
NM_001291415.2(KDM6A):c.2294C>A (p.Thr765Asn)
NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs) rs886041452
NM_001291415.2(KDM6A):c.2325C>T (p.Asn775=)
NM_001291415.2(KDM6A):c.2327T>C (p.Ile776Thr)
NM_001291415.2(KDM6A):c.2328_2329del (p.Leu777fs)
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2333C>T (p.Thr778Met) rs2230018
NM_001291415.2(KDM6A):c.2359G>A (p.Gly787Arg) rs2148042923
NM_001291415.2(KDM6A):c.235T>C (p.Cys79Arg) rs1569483946
NM_001291415.2(KDM6A):c.2405A>T (p.His802Leu) rs756545808
NM_001291415.2(KDM6A):c.2408T>A (p.Val803Asp)
NM_001291415.2(KDM6A):c.2447A>G (p.His816Arg) rs772552174
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) rs886039398
NM_001291415.2(KDM6A):c.2493G>A (p.Gln831=)
NM_001291415.2(KDM6A):c.24C>T (p.Leu8=) rs2031055969
NM_001291415.2(KDM6A):c.251T>A (p.Ile84Asn)
NM_001291415.2(KDM6A):c.2579A>G (p.His860Arg) rs2044749099
NM_001291415.2(KDM6A):c.2599G>T (p.Val867Phe)
NM_001291415.2(KDM6A):c.2614T>C (p.Ser872Pro)
NM_001291415.2(KDM6A):c.2635A>G (p.Thr879Ala)
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.2698C>T (p.His900Tyr) rs2148054107
NM_001291415.2(KDM6A):c.269A>G (p.Lys90Arg)
NM_001291415.2(KDM6A):c.271G>T (p.Val91Leu)
NM_001291415.2(KDM6A):c.2734G>A (p.Glu912Lys)
NM_001291415.2(KDM6A):c.2755A>G (p.Lys919Glu)
NM_001291415.2(KDM6A):c.2792C>T (p.Pro931Leu)
NM_001291415.2(KDM6A):c.2834C>T (p.Ser945Leu) rs1556331046
NM_001291415.2(KDM6A):c.2845C>G (p.Leu949Val)
NM_001291415.2(KDM6A):c.2859-52dup rs1236801760
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-5dup rs10605935
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2885A>C (p.Asn962Thr)
NM_001291415.2(KDM6A):c.28_39dup (p.Thr10_Ala13dup) rs769370817
NM_001291415.2(KDM6A):c.2908T>C (p.Cys970Arg) rs2148101517
NM_001291415.2(KDM6A):c.2915C>T (p.Pro972Leu) rs2148101706
NM_001291415.2(KDM6A):c.2926C>T (p.Pro976Ser)
NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs) rs886041899
NM_001291415.2(KDM6A):c.2987A>G (p.Tyr996Cys)
NM_001291415.2(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.2(KDM6A):c.298G>A (p.Gly100Ser) rs2147169831
NM_001291415.2(KDM6A):c.2990T>C (p.Leu997Ser)
NM_001291415.2(KDM6A):c.3010T>C (p.Phe1004Leu)
NM_001291415.2(KDM6A):c.3012C>G (p.Phe1004Leu) rs767666350
NM_001291415.2(KDM6A):c.3016C>G (p.Pro1006Ala) rs2148112856
NM_001291415.2(KDM6A):c.3017C>T (p.Pro1006Leu)
NM_001291415.2(KDM6A):c.3042T>G (p.Asn1014Lys)
NM_001291415.2(KDM6A):c.3053C>T (p.Pro1018Leu)
NM_001291415.2(KDM6A):c.3095-1G>C rs2045273679
NM_001291415.2(KDM6A):c.3095-6A>C rs2148117604
NM_001291415.2(KDM6A):c.3096C>T (p.Asp1032=) rs2148117698
NM_001291415.2(KDM6A):c.3138del (p.Asn1046fs) rs2148118664
NM_001291415.2(KDM6A):c.3143A>G (p.His1048Arg) rs2148118758
NM_001291415.2(KDM6A):c.3165G>T (p.Gln1055His)
NM_001291415.2(KDM6A):c.319G>A (p.Glu107Lys)
NM_001291415.2(KDM6A):c.3221A>G (p.His1074Arg)
NM_001291415.2(KDM6A):c.322G>A (p.Asp108Asn) rs1569484132
NM_001291415.2(KDM6A):c.3233A>G (p.Asn1078Ser)
NM_001291415.2(KDM6A):c.3239del (p.Ser1080fs)
NM_001291415.2(KDM6A):c.3256A>G (p.Lys1086Glu)
NM_001291415.2(KDM6A):c.3261T>C (p.Tyr1087=) rs867558265
NM_001291415.2(KDM6A):c.3274G>A (p.Ala1092Thr)
NM_001291415.2(KDM6A):c.3277T>G (p.Ser1093Ala)
NM_001291415.2(KDM6A):c.3300+151TATG[11] rs72270582
NM_001291415.2(KDM6A):c.3300+151TATG[8] rs72270582
NM_001291415.2(KDM6A):c.3300+151TATG[9] rs72270582
NM_001291415.2(KDM6A):c.3322CAT[1] (p.His1109del)
NM_001291415.2(KDM6A):c.3323A>G (p.His1108Arg)
NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs) rs1556346208
NM_001291415.2(KDM6A):c.335-70C>A rs6611055
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+3_3365+6del rs2148141971
NM_001291415.2(KDM6A):c.3371GGA[5] (p.Arg1127dup) rs1569538311
NM_001291415.2(KDM6A):c.3380G>A (p.Arg1127Lys)
NM_001291415.2(KDM6A):c.3386G>A (p.Gly1129Glu)
NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr) rs2039532932
NM_001291415.2(KDM6A):c.3441-284_3441-282del rs760012564
NM_001291415.2(KDM6A):c.3465G>C (p.Leu1155=) rs961946514
NM_001291415.2(KDM6A):c.3478G>C (p.Ala1160Pro)
NM_001291415.2(KDM6A):c.3488G>C (p.Arg1163Pro) rs1457797612
NM_001291415.2(KDM6A):c.3500C>T (p.Ala1167Val)
NM_001291415.2(KDM6A):c.3507T>G (p.Asn1169Lys) rs2148152270
NM_001291415.2(KDM6A):c.3532A>G (p.Ile1178Val)
NM_001291415.2(KDM6A):c.3559T>C (p.Tyr1187His)
NM_001291415.2(KDM6A):c.3588A>G (p.Pro1196=) rs2148154612
NM_001291415.2(KDM6A):c.3592C>G (p.His1198Asp)
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.2(KDM6A):c.3626dup (p.Asn1210fs) rs1602965271
NM_001291415.2(KDM6A):c.3635G>T (p.Gly1212Val) rs2148169289
NM_001291415.2(KDM6A):c.3680G>A (p.Gly1227Asp)
NM_001291415.2(KDM6A):c.3697T>C (p.Cys1233Arg)
NM_001291415.2(KDM6A):c.3704+122G>A rs147324955
NM_001291415.2(KDM6A):c.3705-201del rs766771357
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.3766A>G (p.Asn1256Asp)
NM_001291415.2(KDM6A):c.3770T>C (p.Val1257Ala)
NM_001291415.2(KDM6A):c.3788T>G (p.Ile1263Ser)
NM_001291415.2(KDM6A):c.3791A>G (p.Gln1264Arg) rs797045644
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) rs2045816079
NM_001291415.2(KDM6A):c.3832C>G (p.His1278Asp)
NM_001291415.2(KDM6A):c.3835T>C (p.Trp1279Arg) rs1064795033
NM_001291415.2(KDM6A):c.384+93dup rs200529431
NM_001291415.2(KDM6A):c.3863A>G (p.Asn1288Ser)
NM_001291415.2(KDM6A):c.3865A>G (p.Ile1289Val) rs2148195622
NM_001291415.2(KDM6A):c.3871T>G (p.Trp1291Gly) rs2148195810
NM_001291415.2(KDM6A):c.3887T>C (p.Leu1296Pro)
NM_001291415.2(KDM6A):c.3892+1G>T
NM_001291415.2(KDM6A):c.3892+249G>C rs181019313
NM_001291415.2(KDM6A):c.3892+270del rs199753760
NM_001291415.2(KDM6A):c.3892+42G>A rs186387742
NM_001291415.2(KDM6A):c.3917A>G (p.Glu1306Gly)
NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter) rs1556357314
NM_001291415.2(KDM6A):c.3985A>G (p.Met1329Val) rs2148204581
NM_001291415.2(KDM6A):c.398T>G (p.Leu133Ter) rs1556115974
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.4003G>T (p.Val1335Phe)
NM_001291415.2(KDM6A):c.4034+3_4034+6del
NM_001291415.2(KDM6A):c.4035-1G>A rs2148287574
NM_001291415.2(KDM6A):c.4035-2A>T
NM_001291415.2(KDM6A):c.4035-305del rs57815060
NM_001291415.2(KDM6A):c.4060C>T (p.Gln1354Ter) rs1556375815
NM_001291415.2(KDM6A):c.406C>T (p.Leu136Phe)
NM_001291415.2(KDM6A):c.4088T>A (p.Ile1363Asn) rs763097875
NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup) rs749062014
NM_001291415.2(KDM6A):c.4118G>A (p.Gly1373Glu)
NM_001291415.2(KDM6A):c.4121G>A (p.Arg1374Gln)
NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs) rs1064793351
NM_001291415.2(KDM6A):c.4161+26del rs11343829
NM_001291415.2(KDM6A):c.4161+5_4161+8del rs886041946
NM_001291415.2(KDM6A):c.4265A>C (p.Glu1422Ala)
NM_001291415.2(KDM6A):c.4276G>T (p.Val1426Leu)
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.4312G>A (p.Val1438Ile) rs2148307962
NM_001291415.2(KDM6A):c.4332+1G>A rs2148308441
NM_001291415.2(KDM6A):c.4332+1G>C rs2148308441
NM_001291415.2(KDM6A):c.4332+3A>T rs2148308491
NM_001291415.2(KDM6A):c.4337C>T (p.Pro1446Leu)
NM_001291415.2(KDM6A):c.4339C>G (p.Pro1447Ala)
NM_001291415.2(KDM6A):c.4351G>A (p.Ala1451Thr)
NM_001291415.2(KDM6A):c.4358C>A (p.Ser1453Tyr)
NM_001291415.2(KDM6A):c.443+6T>G
NM_001291415.2(KDM6A):c.493C>G (p.Arg165Gly)
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001291415.2(KDM6A):c.520G>A (p.Gly174Arg)
NM_001291415.2(KDM6A):c.521G>A (p.Gly174Glu) rs2147667381
NM_001291415.2(KDM6A):c.524T>C (p.Leu175Pro)
NM_001291415.2(KDM6A):c.619+4_619+7del rs2147777529
NM_001291415.2(KDM6A):c.638A>G (p.His213Arg)
NM_001291415.2(KDM6A):c.63G>C (p.Glu21Asp)
NM_001291415.2(KDM6A):c.63_65del (p.Glu22del) rs2146442198
NM_001291415.2(KDM6A):c.648A>C (p.Glu216Asp)
NM_001291415.2(KDM6A):c.648A>T (p.Glu216Asp) rs1345717578
NM_001291415.2(KDM6A):c.654+108del rs200420008
NM_001291415.2(KDM6A):c.655-13_655-12del rs758763063
NM_001291415.2(KDM6A):c.655-2371_782del
NM_001291415.2(KDM6A):c.676G>C (p.Glu226Gln)
NM_001291415.2(KDM6A):c.703G>C (p.Glu235Gln)
NM_001291415.2(KDM6A):c.705_706del (p.Asn236fs)
NM_001291415.2(KDM6A):c.719A>G (p.Gln240Arg)
NM_001291415.2(KDM6A):c.748+1G>A rs1131691535
NM_001291415.2(KDM6A):c.749-310G>A rs5952673
NM_001291415.2(KDM6A):c.75_90dup (p.Ser31fs) rs1555957162
NM_001291415.2(KDM6A):c.803A>G (p.Tyr268Cys)
NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.2(KDM6A):c.876-16del rs372323256
NM_001291415.2(KDM6A):c.876-16dup rs372323256
NM_001291415.2(KDM6A):c.876-1G>A
NM_001291415.2(KDM6A):c.913A>G (p.Ile305Val) rs2044200158
NM_001291415.2(KDM6A):c.932T>C (p.Ile311Thr)
NM_001291415.2(KDM6A):c.946G>A (p.Ala316Thr)
NM_001291415.2(KDM6A):c.947C>G (p.Ala316Gly)
NM_001291415.2(KDM6A):c.962G>A (p.Trp321Ter)
NM_001291415.2(KDM6A):c.9C>T (p.Ser3=)

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