ClinVar Miner

List of variants in gene KDM6B reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001348716.2(KDM6B):c.1343C>T (p.Pro448Leu) rs568419773 0.00004
NM_001348716.2(KDM6B):c.1336C>T (p.Arg446Trp) rs375353410 0.00002
NM_001348716.2(KDM6B):c.1030G>C (p.Ala344Pro) rs1362384514 0.00001
NM_001348716.2(KDM6B):c.1918G>A (p.Val640Met) rs534591239 0.00001
NM_001348716.2(KDM6B):c.2378C>A (p.Pro793Gln) rs2078620295 0.00001
NM_001348716.2(KDM6B):c.584C>T (p.Pro195Leu) rs770644165 0.00001
NM_001348716.2(KDM6B):c.95C>T (p.Pro32Leu) rs753819960 0.00001
NM_001348716.2(KDM6B):c.1015C>A (p.Pro339Thr)
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001348716.2(KDM6B):c.1142_1147dup (p.Cys382_Val383insAlaCys)
NM_001348716.2(KDM6B):c.1171C>T (p.Pro391Ser) rs2151376656
NM_001348716.2(KDM6B):c.1180C>T (p.Pro394Ser)
NM_001348716.2(KDM6B):c.1208GCA[3] (p.Ser406del)
NM_001348716.2(KDM6B):c.1211G>A (p.Ser404Asn)
NM_001348716.2(KDM6B):c.1231C>T (p.Arg411Trp)
NM_001348716.2(KDM6B):c.1237_1241delinsTC (p.Val413_Glu414delinsSer)
NM_001348716.2(KDM6B):c.1250C>T (p.Pro417Leu)
NM_001348716.2(KDM6B):c.1337_1341delinsTTGTG (p.Arg446_Lys447delinsLeuVal)
NM_001348716.2(KDM6B):c.1432C>G (p.Arg478Gly)
NM_001348716.2(KDM6B):c.1432C>T (p.Arg478Cys)
NM_001348716.2(KDM6B):c.1537C>G (p.Arg513Gly) rs747967832
NM_001348716.2(KDM6B):c.1570G>A (p.Gly524Ser)
NM_001348716.2(KDM6B):c.1616A>T (p.Asp539Val) rs752236028
NM_001348716.2(KDM6B):c.1639CCAACC[3] (p.Thr550_Thr551insProThr)
NM_001348716.2(KDM6B):c.1662CAACAG[1] (p.555NS[1]) rs755048002
NM_001348716.2(KDM6B):c.1674T>G (p.Ser558Arg)
NM_001348716.2(KDM6B):c.1684A>C (p.Ser562Arg)
NM_001348716.2(KDM6B):c.1707G>A (p.Val569=)
NM_001348716.2(KDM6B):c.1780C>T (p.Pro594Ser)
NM_001348716.2(KDM6B):c.182C>T (p.Pro61Leu)
NM_001348716.2(KDM6B):c.184C>A (p.Pro62Thr)
NM_001348716.2(KDM6B):c.1878G>A (p.Glu626=) rs2078603818
NM_001348716.2(KDM6B):c.1921G>T (p.Gly641Trp) rs2151377376
NM_001348716.2(KDM6B):c.1991C>T (p.Pro664Leu)
NM_001348716.2(KDM6B):c.2053C>T (p.Pro685Ser)
NM_001348716.2(KDM6B):c.2059G>A (p.Glu687Lys)
NM_001348716.2(KDM6B):c.2077G>T (p.Asp693Tyr)
NM_001348716.2(KDM6B):c.2089A>G (p.Asn697Asp) rs2078609913
NM_001348716.2(KDM6B):c.2122A>G (p.Lys708Glu)
NM_001348716.2(KDM6B):c.2209C>T (p.Pro737Ser)
NM_001348716.2(KDM6B):c.225T>A (p.Tyr75Ter) rs1567788859
NM_001348716.2(KDM6B):c.2279C>G (p.Thr760Ser)
NM_001348716.2(KDM6B):c.2330C>T (p.Pro777Leu)
NM_001348716.2(KDM6B):c.236+3G>C rs1181133730
NM_001348716.2(KDM6B):c.2378_2379delinsAG (p.Pro793Gln)
NM_001348716.2(KDM6B):c.2531G>A (p.Gly844Asp)
NM_001348716.2(KDM6B):c.2551A>G (p.Thr851Ala)
NM_001348716.2(KDM6B):c.2564C>G (p.Pro855Arg)
NM_001348716.2(KDM6B):c.2618C>T (p.Thr873Ile)
NM_001348716.2(KDM6B):c.2623G>A (p.Gly875Ser)
NM_001348716.2(KDM6B):c.2626G>C (p.Gly876Arg)
NM_001348716.2(KDM6B):c.2635G>A (p.Ala879Thr)
NM_001348716.2(KDM6B):c.263G>A (p.Gly88Glu)
NM_001348716.2(KDM6B):c.2662C>T (p.Pro888Ser) rs1597847739
NM_001348716.2(KDM6B):c.2684_2685del (p.Pro895fs) rs1489158595
NM_001348716.2(KDM6B):c.2719G>A (p.Ala907Thr)
NM_001348716.2(KDM6B):c.2782G>A (p.Val928Met)
NM_001348716.2(KDM6B):c.289G>A (p.Val97Met)
NM_001348716.2(KDM6B):c.292C>G (p.Gln98Glu)
NM_001348716.2(KDM6B):c.2954G>A (p.Arg985Gln)
NM_001348716.2(KDM6B):c.3002G>T (p.Gly1001Val)
NM_001348716.2(KDM6B):c.3010A>G (p.Lys1004Glu) rs2151378115
NM_001348716.2(KDM6B):c.3014CCAAGG[1] (p.1003AK[2])
NM_001348716.2(KDM6B):c.3085dup (p.Gln1029fs) rs1567798814
NM_001348716.2(KDM6B):c.3117_3119del (p.Gly1040del)
NM_001348716.2(KDM6B):c.3166C>T (p.Pro1056Ser)
NM_001348716.2(KDM6B):c.3190C>A (p.Pro1064Thr)
NM_001348716.2(KDM6B):c.3194C>T (p.Pro1065Leu)
NM_001348716.2(KDM6B):c.3226_3227delinsTT (p.Glu1076Leu)
NM_001348716.2(KDM6B):c.3251_3261delinsCCAG (p.Val1084fs) rs1567799308
NM_001348716.2(KDM6B):c.3313A>G (p.Ile1105Val)
NM_001348716.2(KDM6B):c.3322A>T (p.Ile1108Phe)
NM_001348716.2(KDM6B):c.3334_3335del (p.Ser1112fs) rs1597850788
NM_001348716.2(KDM6B):c.3336T>A (p.Ser1112Arg)
NM_001348716.2(KDM6B):c.3380G>C (p.Arg1127Pro)
NM_001348716.2(KDM6B):c.3410A>C (p.His1137Pro)
NM_001348716.2(KDM6B):c.3422A>C (p.Asp1141Ala)
NM_001348716.2(KDM6B):c.3427G>C (p.Val1143Leu)
NM_001348716.2(KDM6B):c.3440G>T (p.Arg1147Met)
NM_001348716.2(KDM6B):c.3472_3473delinsAT (p.Ser1158Ile)
NM_001348716.2(KDM6B):c.3494C>T (p.Ser1165Phe)
NM_001348716.2(KDM6B):c.3527T>G (p.Leu1176Arg)
NM_001348716.2(KDM6B):c.3546C>A (p.Asn1182Lys)
NM_001348716.2(KDM6B):c.3550C>T (p.Pro1184Ser)
NM_001348716.2(KDM6B):c.3554C>T (p.Thr1185Ile)
NM_001348716.2(KDM6B):c.3560G>C (p.Ser1187Thr)
NM_001348716.2(KDM6B):c.3564C>G (p.Ile1188Met)
NM_001348716.2(KDM6B):c.3580C>T (p.Arg1194Trp)
NM_001348716.2(KDM6B):c.3612C>G (p.Phe1204Leu)
NM_001348716.2(KDM6B):c.3634A>G (p.Ile1212Val)
NM_001348716.2(KDM6B):c.37G>T (p.Ala13Ser)
NM_001348716.2(KDM6B):c.382C>G (p.Arg128Gly)
NM_001348716.2(KDM6B):c.431G>C (p.Gly144Ala) rs2078534262
NM_001348716.2(KDM6B):c.445C>T (p.Arg149Ter) rs1419917079
NM_001348716.2(KDM6B):c.4487C>A (p.Ala1496Asp)
NM_001348716.2(KDM6B):c.4611-7T>C
NM_001348716.2(KDM6B):c.4630A>C (p.Met1544Leu) rs936833946
NM_001348716.2(KDM6B):c.463C>T (p.Leu155Phe)
NM_001348716.2(KDM6B):c.4654G>C (p.Glu1552Gln)
NM_001348716.2(KDM6B):c.4673G>A (p.Gly1558Glu)
NM_001348716.2(KDM6B):c.4697G>A (p.Arg1566His)
NM_001348716.2(KDM6B):c.4729G>A (p.Glu1577Lys)
NM_001348716.2(KDM6B):c.4738-6C>T
NM_001348716.2(KDM6B):c.4743G>T (p.Glu1581Asp)
NM_001348716.2(KDM6B):c.4783C>T (p.Arg1595Cys)
NM_001348716.2(KDM6B):c.4787dup (p.Asn1596fs) rs2151380360
NM_001348716.2(KDM6B):c.4794C>G (p.Tyr1598Ter)
NM_001348716.2(KDM6B):c.4819C>G (p.Arg1607Gly)
NM_001348716.2(KDM6B):c.481G>T (p.Gly161Cys)
NM_001348716.2(KDM6B):c.4908+26_4908+28del
NM_001348716.2(KDM6B):c.4908+53dup
NM_001348716.2(KDM6B):c.4932A>C (p.Ter1644Cys)
NM_001348716.2(KDM6B):c.497G>A (p.Arg166Gln)
NM_001348716.2(KDM6B):c.62G>A (p.Gly21Asp)
NM_001348716.2(KDM6B):c.753ACC[8] (p.Pro260_Pro264del) rs61462443
NM_001348716.2(KDM6B):c.881G>T (p.Arg294Leu)

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