ClinVar Miner

List of variants studied for Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_001348716.2(KDM6B):c.1264G>A (p.Ala422Thr) rs2078581608 0.00001
NM_001348716.2(KDM6B):c.283G>A (p.Gly95Ser) rs2078531057 0.00001
NM_001348716.2(KDM6B):c.4895A>G (p.Asp1632Gly) rs866817393 0.00001
NM_001348716.2(KDM6B):c.1018del (p.Arg340fs) rs1311274985
NM_001348716.2(KDM6B):c.1053_1056del (p.Ala352fs) rs2544523557
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.1229_1233dup (p.Gly412fs) rs2544523985
NM_001348716.2(KDM6B):c.1260_1270del (p.Gly421fs) rs2544524391
NM_001348716.2(KDM6B):c.138-1G>A rs2078522740
NM_001348716.2(KDM6B):c.138-2A>G rs2078522713
NM_001348716.2(KDM6B):c.1416_1417del (p.Cys473fs) rs2078587931
NM_001348716.2(KDM6B):c.1439dup (p.Pro481fs) rs2544524865
NM_001348716.2(KDM6B):c.1483C>T (p.Arg495Ter) rs1597842212
NM_001348716.2(KDM6B):c.1537dup (p.Arg513fs) rs747555402
NM_001348716.2(KDM6B):c.1639CCAACC[1] (p.547PT[1]) rs2544525463
NM_001348716.2(KDM6B):c.1769del (p.Pro590fs) rs2544525742
NM_001348716.2(KDM6B):c.2012_2013del (p.Leu670_Phe671insTer) rs2544526292
NM_001348716.2(KDM6B):c.2125G>T (p.Glu709Ter) rs1480815491
NM_001348716.2(KDM6B):c.2134C>T (p.Gln712Ter) rs2544526488
NM_001348716.2(KDM6B):c.2448C>G (p.Tyr816Ter) rs1281715394
NM_001348716.2(KDM6B):c.2572C>T (p.Gln858Ter) rs2544527581
NM_001348716.2(KDM6B):c.2598del (p.Ser867fs) rs2544527637
NM_001348716.2(KDM6B):c.2690_2703del (p.Gln897fs) rs2544527912
NM_001348716.2(KDM6B):c.2699del (p.Pro900fs) rs2544527999
NM_001348716.2(KDM6B):c.2865del (p.Ala956fs) rs1480163265
NM_001348716.2(KDM6B):c.2923C>T (p.Arg975Ter) rs2078638223
NM_001348716.2(KDM6B):c.2970dup (p.Lys991Ter) rs2544528620
NM_001348716.2(KDM6B):c.2985_2988delinsGGGACAGTGCC (p.Arg996fs) rs2544528647
NM_001348716.2(KDM6B):c.3038del (p.Lys1013fs) rs2544528754
NM_001348716.2(KDM6B):c.3046dup (p.Arg1016fs) rs2151378140
NM_001348716.2(KDM6B):c.3281C>A (p.Ser1094Ter) rs2544529151
NM_001348716.2(KDM6B):c.3288_3291del (p.Ser1096fs) rs1274337429
NM_001348716.2(KDM6B):c.3300del (p.Lys1101fs) rs1567799458
NM_001348716.2(KDM6B):c.343C>T (p.Gln115Ter) rs2544520280
NM_001348716.2(KDM6B):c.3444T>G (p.Asn1148Lys) rs2544529725
NM_001348716.2(KDM6B):c.3535dup (p.Glu1179fs) rs2544529915
NM_001348716.2(KDM6B):c.3564_3567delCTAT (p.Tyr1189fs) rs2544529971
NM_001348716.2(KDM6B):c.3674-2A>G rs2544531959
NM_001348716.2(KDM6B):c.3762_3764del (p.Asp1254del) rs2544532079
NM_001348716.2(KDM6B):c.3911_3912del (p.Glu1304fs) rs2544532487
NM_001348716.2(KDM6B):c.3944+1G>A rs2544532565
NM_001348716.2(KDM6B):c.4020_4021delinsAT (p.Trp1340_Lys1341delinsTer) rs2544533127
NM_001348716.2(KDM6B):c.403C>T (p.Arg135Ter) rs957520585
NM_001348716.2(KDM6B):c.4118T>C (p.Met1373Thr) rs2544533271
NM_001348716.2(KDM6B):c.4165+2T>A rs2544533330
NM_001348716.2(KDM6B):c.4174G>A (p.Glu1392Lys) rs1232287616
NM_001348716.2(KDM6B):c.4186T>A (p.Phe1396Ile) rs2544533842
NM_001348716.2(KDM6B):c.4187_4189del (p.Phe1396del) rs2078705936
NM_001348716.2(KDM6B):c.4193C>A (p.Ser1398Tyr) rs1453375461
NM_001348716.2(KDM6B):c.419dup (p.Ala141fs) rs2544520480
NM_001348716.2(KDM6B):c.4222T>C (p.Cys1408Arg) rs2544533899
NM_001348716.2(KDM6B):c.4254G>T (p.Trp1418Cys) rs2544533939
NM_001348716.2(KDM6B):c.4431G>A (p.Trp1477Ter) rs2151379742
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348716.2(KDM6B):c.4468+5G>C rs1952122839
NM_001348716.2(KDM6B):c.4500C>A (p.Tyr1500Ter) rs762876815
NM_001348716.2(KDM6B):c.4540A>G (p.Met1514Val) rs2544534957
NM_001348716.2(KDM6B):c.4568G>C (p.Arg1523Pro) rs2544534983
NM_001348716.2(KDM6B):c.4696C>A (p.Arg1566Ser) rs2544536305
NM_001348716.2(KDM6B):c.4708G>C (p.Glu1570Gln) rs2544536342
NM_001348716.2(KDM6B):c.4708G>T (p.Glu1570Ter) rs2544536342
NM_001348716.2(KDM6B):c.4724G>C (p.Cys1575Ser) rs2544536369
NM_001348716.2(KDM6B):c.4733del (p.Cys1578fs) rs2544536378
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001348716.2(KDM6B):c.4750A>C (p.Asn1584His) rs2544536781
NM_001348716.2(KDM6B):c.4795del (p.Leu1599fs) rs2544536867
NM_001348716.2(KDM6B):c.496C>T (p.Arg166Ter) rs2078539742
NM_001348716.2(KDM6B):c.523C>T (p.Gln175Ter) rs761401181
NM_001348716.2(KDM6B):c.578del (p.Gly193fs) rs1567790132
NM_001348716.2(KDM6B):c.654_655del (p.Glu220fs) rs2544521814
NM_001348716.2(KDM6B):c.685C>T (p.Arg229Ter) rs2544521866

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