ClinVar Miner

List of variants reported as likely benign for Kabuki syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.2859-17T>C rs201108448 0.00674
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser) rs200638114 0.00020
NM_001291415.2(KDM6A):c.2024A>C (p.Asn675Thr) rs760145252 0.00013
NM_001291415.2(KDM6A):c.1671G>C (p.Met557Ile) rs368984079 0.00010
NM_001291415.2(KDM6A):c.294A>G (p.Gln98=) rs200940558 0.00007
NM_001291415.2(KDM6A):c.2079+20C>T rs759523834 0.00006
NM_001291415.2(KDM6A):c.870C>T (p.Leu290=) rs369438801 0.00006
NM_001291415.2(KDM6A):c.2049G>A (p.Pro683=) rs748403617 0.00005
NM_001291415.2(KDM6A):c.2502C>T (p.Ala834=) rs965420348 0.00005
NM_001291415.2(KDM6A):c.2859-15T>C rs777284834 0.00005
NM_001291415.2(KDM6A):c.443+17C>T rs765379617 0.00005
NM_001291415.2(KDM6A):c.876-16T>C rs764995519 0.00005
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=) rs781105490 0.00004
NM_001291415.2(KDM6A):c.149G>A (p.Gly50Asp) rs923984398 0.00003
NM_001291415.2(KDM6A):c.1832G>A (p.Arg611His) rs765071454 0.00003
NM_001291415.2(KDM6A):c.2017C>T (p.Arg673Cys) rs139486036 0.00003
NM_001291415.2(KDM6A):c.335-20C>T rs371294715 0.00003
NM_001291415.2(KDM6A):c.3405G>A (p.Lys1135=) rs371140397 0.00003
NM_001291415.2(KDM6A):c.384+10C>T rs767711383 0.00003
NM_001291415.2(KDM6A):c.4053T>C (p.Thr1351=) rs769136401 0.00003
NM_001291415.2(KDM6A):c.4101A>G (p.Lys1367=) rs766561203 0.00003
NM_001291415.2(KDM6A):c.619+16T>C rs1009865150 0.00003
NM_001291415.2(KDM6A):c.1038A>G (p.Gln346=) rs753101387 0.00002
NM_001291415.2(KDM6A):c.1634T>G (p.Leu545Arg) rs1235361183 0.00002
NM_001291415.2(KDM6A):c.1952C>T (p.Thr651Ile) rs773022554 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.2629A>G (p.Thr877Ala) rs140562248 0.00002
NM_001291415.2(KDM6A):c.2899T>C (p.Leu967=) rs374328447 0.00002
NM_001291415.2(KDM6A):c.2970A>G (p.Pro990=) rs767248655 0.00002
NM_001291415.2(KDM6A):c.3045G>A (p.Pro1015=) rs760529172 0.00002
NM_001291415.2(KDM6A):c.3145A>G (p.Met1049Val) rs200457543 0.00002
NM_001291415.2(KDM6A):c.3589+20A>G rs779956691 0.00002
NM_001291415.2(KDM6A):c.3893-6T>C rs766167940 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001291415.2(KDM6A):c.565-9G>A rs1171173147 0.00002
NM_001291415.2(KDM6A):c.749-5dup rs757809203 0.00002
NM_001291415.2(KDM6A):c.1486-12G>A rs762409573 0.00001
NM_001291415.2(KDM6A):c.1991G>A (p.Arg664Gln) rs973676174 0.00001
NM_001291415.2(KDM6A):c.2064A>C (p.Leu688=) rs772897984 0.00001
NM_001291415.2(KDM6A):c.222C>G (p.Gly74=) rs1042038341 0.00001
NM_001291415.2(KDM6A):c.2558A>G (p.Asn853Ser) rs1196875808 0.00001
NM_001291415.2(KDM6A):c.3348A>G (p.Glu1116=) rs375622972 0.00001
NM_001291415.2(KDM6A):c.385-12C>T rs1160858937 0.00001
NM_001291415.2(KDM6A):c.4035-14C>T rs894854171 0.00001
NM_001291415.2(KDM6A):c.4075A>C (p.Arg1359=) rs1208237716 0.00001
NM_001291415.2(KDM6A):c.4254C>T (p.Ser1418=) rs377465023 0.00001
NM_001291415.2(KDM6A):c.4323A>G (p.Gln1441=) rs753713461 0.00001
NM_001291415.2(KDM6A):c.706A>C (p.Asn236His) rs780484731 0.00001
NM_001291415.2(KDM6A):c.822A>G (p.Gln274=) rs181883752 0.00001
NM_001291415.2(KDM6A):c.975-18C>A rs1361135215 0.00001
NM_001291415.2(KDM6A):c.1089A>G (p.Glu363=)
NM_001291415.2(KDM6A):c.117C>T (p.Pro39=)
NM_001291415.2(KDM6A):c.1194+19A>G
NM_001291415.2(KDM6A):c.1195-14A>G
NM_001291415.2(KDM6A):c.1329+16A>T rs2147966824
NM_001291415.2(KDM6A):c.141G>A (p.Glu47=)
NM_001291415.2(KDM6A):c.1486-12G>T rs762409573
NM_001291415.2(KDM6A):c.1486-18T>A
NM_001291415.2(KDM6A):c.1491T>G (p.Thr497=)
NM_001291415.2(KDM6A):c.150C>T (p.Gly50=)
NM_001291415.2(KDM6A):c.154C>T (p.Leu52=)
NM_001291415.2(KDM6A):c.1554A>G (p.Ser518=)
NM_001291415.2(KDM6A):c.1581+20C>T
NM_001291415.2(KDM6A):c.1582-12TTC[2] rs764419475
NM_001291415.2(KDM6A):c.1590A>G (p.Glu530=)
NM_001291415.2(KDM6A):c.1599C>T (p.Arg533=)
NM_001291415.2(KDM6A):c.1605T>C (p.Asn535=)
NM_001291415.2(KDM6A):c.161+17C>T
NM_001291415.2(KDM6A):c.161+9C>T
NM_001291415.2(KDM6A):c.162-10G>A
NM_001291415.2(KDM6A):c.162-12C>G
NM_001291415.2(KDM6A):c.162-12_162-11del rs774436229
NM_001291415.2(KDM6A):c.162-17T>C
NM_001291415.2(KDM6A):c.162-17T>G
NM_001291415.2(KDM6A):c.162-18C>T
NM_001291415.2(KDM6A):c.162-5C>T rs2031150101
NM_001291415.2(KDM6A):c.1674A>G (p.Gln558=)
NM_001291415.2(KDM6A):c.1684-18C>T rs2147989635
NM_001291415.2(KDM6A):c.1719T>C (p.Thr573=)
NM_001291415.2(KDM6A):c.1739C>T (p.Thr580Ile)
NM_001291415.2(KDM6A):c.1850A>G (p.Gln617Arg) rs192637629
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001291415.2(KDM6A):c.1896C>T (p.Ser632=)
NM_001291415.2(KDM6A):c.1902A>G (p.Ser634=) rs1602820109
NM_001291415.2(KDM6A):c.1962A>T (p.Gly654=)
NM_001291415.2(KDM6A):c.196G>A (p.Gly66Ser)
NM_001291415.2(KDM6A):c.1986G>C (p.Leu662=)
NM_001291415.2(KDM6A):c.1989G>A (p.Gln663=)
NM_001291415.2(KDM6A):c.1998A>T (p.Ala666=)
NM_001291415.2(KDM6A):c.2016C>T (p.Asn672=)
NM_001291415.2(KDM6A):c.2079+10_2079+12del rs1177394697
NM_001291415.2(KDM6A):c.2079+14T>C rs1972307267
NM_001291415.2(KDM6A):c.2080-18A>G
NM_001291415.2(KDM6A):c.2133T>C (p.Pro711=)
NM_001291415.2(KDM6A):c.2136C>G (p.Leu712=)
NM_001291415.2(KDM6A):c.2229A>G (p.Thr743=)
NM_001291415.2(KDM6A):c.2235G>A (p.Gly745=)
NM_001291415.2(KDM6A):c.2236G>A (p.Ala746Thr)
NM_001291415.2(KDM6A):c.225+14G>T
NM_001291415.2(KDM6A):c.225+19G>T rs758432529
NM_001291415.2(KDM6A):c.2253C>T (p.Leu751=)
NM_001291415.2(KDM6A):c.2256C>T (p.Ser752=) rs2148039305
NM_001291415.2(KDM6A):c.226-8A>G
NM_001291415.2(KDM6A):c.2300C>T (p.Thr767Ile)
NM_001291415.2(KDM6A):c.2301C>T (p.Thr767=)
NM_001291415.2(KDM6A):c.232C>T (p.Arg78Cys)
NM_001291415.2(KDM6A):c.2350A>G (p.Arg784Gly)
NM_001291415.2(KDM6A):c.2405A>T (p.His802Leu) rs756545808
NM_001291415.2(KDM6A):c.2421G>T (p.Thr807=)
NM_001291415.2(KDM6A):c.2430T>C (p.Ala810=) rs1219417623
NM_001291415.2(KDM6A):c.2472A>G (p.Leu824=)
NM_001291415.2(KDM6A):c.24C>G (p.Leu8=)
NM_001291415.2(KDM6A):c.2523T>C (p.Asn841=)
NM_001291415.2(KDM6A):c.2595C>T (p.Asn865=)
NM_001291415.2(KDM6A):c.261T>C (p.Ala87=)
NM_001291415.2(KDM6A):c.261T>G (p.Ala87=)
NM_001291415.2(KDM6A):c.2640T>C (p.Pro880=)
NM_001291415.2(KDM6A):c.2667C>T (p.Thr889=)
NM_001291415.2(KDM6A):c.2685C>T (p.Ser895=)
NM_001291415.2(KDM6A):c.2709A>G (p.Leu903=)
NM_001291415.2(KDM6A):c.2778C>T (p.Asn926=)
NM_001291415.2(KDM6A):c.2847G>T (p.Leu949=)
NM_001291415.2(KDM6A):c.2858+12A>G
NM_001291415.2(KDM6A):c.2858+18C>G
NM_001291415.2(KDM6A):c.2859-12T>A rs2045135323
NM_001291415.2(KDM6A):c.2859-3dup rs1339863219
NM_001291415.2(KDM6A):c.2859-6T>G
NM_001291415.2(KDM6A):c.2863C>T (p.Leu955=)
NM_001291415.2(KDM6A):c.2865A>T (p.Leu955=)
NM_001291415.2(KDM6A):c.2883T>G (p.Ser961=)
NM_001291415.2(KDM6A):c.2919A>G (p.Pro973=)
NM_001291415.2(KDM6A):c.2962T>C (p.Leu988=)
NM_001291415.2(KDM6A):c.2989-20C>T
NM_001291415.2(KDM6A):c.3033T>C (p.Phe1011=)
NM_001291415.2(KDM6A):c.3054T>C (p.Pro1018=)
NM_001291415.2(KDM6A):c.3063A>C (p.Val1021=)
NM_001291415.2(KDM6A):c.3072C>G (p.Gly1024=)
NM_001291415.2(KDM6A):c.3094+12del rs2148113343
NM_001291415.2(KDM6A):c.3094+13T>C
NM_001291415.2(KDM6A):c.3094+15A>C
NM_001291415.2(KDM6A):c.3094+17A>T
NM_001291415.2(KDM6A):c.3094+7C>T
NM_001291415.2(KDM6A):c.3095-6A>C rs2148117604
NM_001291415.2(KDM6A):c.3095-6A>G
NM_001291415.2(KDM6A):c.3180A>G (p.Ala1060=)
NM_001291415.2(KDM6A):c.318G>A (p.Leu106=)
NM_001291415.2(KDM6A):c.3254C>A (p.Ala1085Asp)
NM_001291415.2(KDM6A):c.3255T>C (p.Ala1085=)
NM_001291415.2(KDM6A):c.3261T>C (p.Tyr1087=) rs867558265
NM_001291415.2(KDM6A):c.3300+15C>T
NM_001291415.2(KDM6A):c.3301-18T>C
NM_001291415.2(KDM6A):c.330A>G (p.Pro110=)
NM_001291415.2(KDM6A):c.3336C>T (p.His1112=)
NM_001291415.2(KDM6A):c.335-13A>G
NM_001291415.2(KDM6A):c.3357G>A (p.Ser1119=)
NM_001291415.2(KDM6A):c.3365+16T>A
NM_001291415.2(KDM6A):c.3365+9T>A
NM_001291415.2(KDM6A):c.3366-11del
NM_001291415.2(KDM6A):c.3366-18C>G
NM_001291415.2(KDM6A):c.3366-8T>A rs2045470468
NM_001291415.2(KDM6A):c.3414C>G (p.Thr1138=)
NM_001291415.2(KDM6A):c.3414C>T (p.Thr1138=) rs2045472846
NM_001291415.2(KDM6A):c.3434A>C (p.Asp1145Ala)
NM_001291415.2(KDM6A):c.3440+10T>G rs2148145230
NM_001291415.2(KDM6A):c.3440+14_3440+16del rs1358314820
NM_001291415.2(KDM6A):c.3440+17A>C
NM_001291415.2(KDM6A):c.3465G>C (p.Leu1155=) rs961946514
NM_001291415.2(KDM6A):c.348C>T (p.Tyr116=)
NM_001291415.2(KDM6A):c.3589+10A>G
NM_001291415.2(KDM6A):c.3589+18A>C
NM_001291415.2(KDM6A):c.3704+12A>G
NM_001291415.2(KDM6A):c.378C>T (p.Tyr126=) rs2147263740
NM_001291415.2(KDM6A):c.384+13T>A
NM_001291415.2(KDM6A):c.384+7G>A rs2039534127
NM_001291415.2(KDM6A):c.385-20C>T rs1408683309
NM_001291415.2(KDM6A):c.388G>A (p.Ala130Thr) rs748724294
NM_001291415.2(KDM6A):c.3892+7T>C
NM_001291415.2(KDM6A):c.3893-14_3893-13insC
NM_001291415.2(KDM6A):c.3893-16T>G
NM_001291415.2(KDM6A):c.4005C>T (p.Val1335=)
NM_001291415.2(KDM6A):c.4034+10_4034+11del
NM_001291415.2(KDM6A):c.4034+10_4034+11dup
NM_001291415.2(KDM6A):c.4034+8T>C
NM_001291415.2(KDM6A):c.4035-8C>T
NM_001291415.2(KDM6A):c.4152C>T (p.Ser1384=)
NM_001291415.2(KDM6A):c.4161+18T>C
NM_001291415.2(KDM6A):c.4162-17T>C rs2148304278
NM_001291415.2(KDM6A):c.4177C>T (p.Leu1393=)
NM_001291415.2(KDM6A):c.4219A>G (p.Ile1407Val)
NM_001291415.2(KDM6A):c.4260C>T (p.Asn1420=)
NM_001291415.2(KDM6A):c.4263G>A (p.Leu1421=) rs2148306758
NM_001291415.2(KDM6A):c.4269C>T (p.Asn1423=) rs2148306874
NM_001291415.2(KDM6A):c.4278G>T (p.Val1426=)
NM_001291415.2(KDM6A):c.429T>C (p.Tyr143=)
NM_001291415.2(KDM6A):c.42CGC[5] (p.Ala16_Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.4333-15T>C
NM_001291415.2(KDM6A):c.443+11A>G
NM_001291415.2(KDM6A):c.443+8G>A
NM_001291415.2(KDM6A):c.48C>G (p.Ala16=)
NM_001291415.2(KDM6A):c.48C>T (p.Ala16=) rs772375300
NM_001291415.2(KDM6A):c.561A>G (p.Leu187=)
NM_001291415.2(KDM6A):c.564+13G>T
NM_001291415.2(KDM6A):c.564+15T>C
NM_001291415.2(KDM6A):c.564+16T>C
NM_001291415.2(KDM6A):c.565-10C>T
NM_001291415.2(KDM6A):c.565-12C>G
NM_001291415.2(KDM6A):c.57T>C (p.Gly19=)
NM_001291415.2(KDM6A):c.619+11T>C
NM_001291415.2(KDM6A):c.619+12T>C
NM_001291415.2(KDM6A):c.619+14A>G
NM_001291415.2(KDM6A):c.620-9C>T rs2147793883
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291415.2(KDM6A):c.660A>G (p.Lys220=)
NM_001291415.2(KDM6A):c.696G>A (p.Leu232=)
NM_001291415.2(KDM6A):c.714T>A (p.Ser238=)
NM_001291415.2(KDM6A):c.748+13_748+23del
NM_001291415.2(KDM6A):c.748+14T>C
NM_001291415.2(KDM6A):c.748+16C>T
NM_001291415.2(KDM6A):c.749-16A>C
NM_001291415.2(KDM6A):c.749-20T>C
NM_001291415.2(KDM6A):c.768A>G (p.Val256=)
NM_001291415.2(KDM6A):c.774C>T (p.Leu258=)
NM_001291415.2(KDM6A):c.852C>A (p.Gly284=)
NM_001291415.2(KDM6A):c.875+19T>G
NM_001291415.2(KDM6A):c.876-13C>T
NM_001291415.2(KDM6A):c.876-13dup
NM_001291415.2(KDM6A):c.876-14C>T rs1192148930
NM_001291415.2(KDM6A):c.876-5C>T
NM_001291415.2(KDM6A):c.894G>A (p.Gly298=) rs781549397
NM_001291415.2(KDM6A):c.974+12T>C rs2147957825
NM_001291415.2(KDM6A):c.974+25_974+27del
NM_001291415.2(KDM6A):c.974+9T>G
NM_001291415.2(KDM6A):c.975-16_975-15del

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