ClinVar Miner

List of variants in gene KDM6B reported as likely pathogenic by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001348716.2(KDM6B):c.1018del (p.Arg340fs)
NM_001348716.2(KDM6B):c.1053_1056del (p.Ala352fs)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.1229_1233dup (p.Gly412fs)
NM_001348716.2(KDM6B):c.1260_1270del (p.Gly421fs)
NM_001348716.2(KDM6B):c.138-1G>A rs2078522740
NM_001348716.2(KDM6B):c.138-2A>G
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs) rs2078587931
NM_001348716.2(KDM6B):c.1439dup (p.Pro481fs)
NM_001348716.2(KDM6B):c.1483C>T (p.Arg495Ter) rs1597842212
NM_001348716.2(KDM6B):c.1537dup (p.Arg513fs)
NM_001348716.2(KDM6B):c.1769del (p.Pro590fs)
NM_001348716.2(KDM6B):c.2012_2013del (p.Leu670_Phe671insTer)
NM_001348716.2(KDM6B):c.2125G>T (p.Glu709Ter)
NM_001348716.2(KDM6B):c.2134C>T (p.Gln712Ter)
NM_001348716.2(KDM6B):c.2448C>G (p.Tyr816Ter)
NM_001348716.2(KDM6B):c.2572C>T (p.Gln858Ter)
NM_001348716.2(KDM6B):c.2598del (p.Ser867fs)
NM_001348716.2(KDM6B):c.2690_2703del (p.Gln897fs)
NM_001348716.2(KDM6B):c.2699del (p.Pro900fs)
NM_001348716.2(KDM6B):c.2865del (p.Ala956fs)
NM_001348716.2(KDM6B):c.2923C>T (p.Arg975Ter) rs2078638223
NM_001348716.2(KDM6B):c.2970dup (p.Lys991Ter)
NM_001348716.2(KDM6B):c.2985_2988delinsGGGACAGTGCC (p.Arg996fs)
NM_001348716.2(KDM6B):c.3038del (p.Lys1013fs)
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001348716.2(KDM6B):c.3281C>A (p.Ser1094Ter)
NM_001348716.2(KDM6B):c.3288_3291del (p.Ser1096fs)
NM_001348716.2(KDM6B):c.3300del (p.Lys1101fs)
NM_001348716.2(KDM6B):c.343C>T (p.Gln115Ter)
NM_001348716.2(KDM6B):c.3535dup (p.Glu1179fs)
NM_001348716.2(KDM6B):c.3564_3567delCTAT (p.Tyr1189fs)
NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) rs957520585
NM_001348716.2(KDM6B):c.419dup (p.Ala141fs)
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348716.2(KDM6B):c.4696C>A (p.Arg1566Ser)
NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter)
NM_001348716.2(KDM6B):c.4724G>C (p.Cys1575Ser)
NM_001348716.2(KDM6B):c.4733del (p.Cys1578fs)
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001348716.2(KDM6B):c.4795del (p.Leu1599fs)
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter) rs2078539742
NM_001348716.2(KDM6B):c.523C>T (p.Gln175Ter)
NM_001348716.2(KDM6B):c.578del (p.Gly193fs)
NM_001348716.2(KDM6B):c.654_655del (p.Glu220fs)
NM_001348716.2(KDM6B):c.685C>T (p.Arg229Ter)

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.