ClinVar Miner

List of variants in gene KDM6B reported as uncertain significance for Inborn genetic diseases

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Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_001348716.2(KDM6B):c.625G>T (p.Val209Leu) rs148641957 0.00454
NM_001348716.2(KDM6B):c.1970C>T (p.Pro657Leu) rs199964822 0.00031
NM_001348716.2(KDM6B):c.1067C>A (p.Pro356His)
NM_001348716.2(KDM6B):c.1235G>A (p.Gly412Asp) rs772513608
NM_001348716.2(KDM6B):c.1235G>T (p.Gly412Val)
NM_001348716.2(KDM6B):c.1244C>T (p.Pro415Leu)
NM_001348716.2(KDM6B):c.1282C>G (p.Pro428Ala)
NM_001348716.2(KDM6B):c.1303C>T (p.His435Tyr)
NM_001348716.2(KDM6B):c.1360G>A (p.Ala454Thr)
NM_001348716.2(KDM6B):c.1403C>A (p.Pro468His)
NM_001348716.2(KDM6B):c.1426C>G (p.Leu476Val)
NM_001348716.2(KDM6B):c.1484G>A (p.Arg495Gln)
NM_001348716.2(KDM6B):c.1504G>A (p.Glu502Lys)
NM_001348716.2(KDM6B):c.1531C>A (p.Pro511Thr)
NM_001348716.2(KDM6B):c.1535C>G (p.Pro512Arg)
NM_001348716.2(KDM6B):c.1594C>T (p.Arg532Cys)
NM_001348716.2(KDM6B):c.160C>T (p.Pro54Ser)
NM_001348716.2(KDM6B):c.1763C>T (p.Pro588Leu)
NM_001348716.2(KDM6B):c.1832C>T (p.Pro611Leu)
NM_001348716.2(KDM6B):c.184C>G (p.Pro62Ala)
NM_001348716.2(KDM6B):c.1886G>C (p.Arg629Pro)
NM_001348716.2(KDM6B):c.2122A>G (p.Lys708Glu)
NM_001348716.2(KDM6B):c.2174T>C (p.Leu725Pro)
NM_001348716.2(KDM6B):c.2195T>C (p.Leu732Pro)
NM_001348716.2(KDM6B):c.220C>T (p.Pro74Ser)
NM_001348716.2(KDM6B):c.2317C>T (p.Pro773Ser)
NM_001348716.2(KDM6B):c.2462C>G (p.Thr821Ser)
NM_001348716.2(KDM6B):c.2515C>T (p.Pro839Ser)
NM_001348716.2(KDM6B):c.2519G>A (p.Gly840Asp)
NM_001348716.2(KDM6B):c.2521C>T (p.Pro841Ser)
NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala) rs1000777879
NM_001348716.2(KDM6B):c.2524C>T (p.Pro842Ser)
NM_001348716.2(KDM6B):c.2531G>A (p.Gly844Asp)
NM_001348716.2(KDM6B):c.2590T>C (p.Ser864Pro)
NM_001348716.2(KDM6B):c.2597C>T (p.Ser866Phe)
NM_001348716.2(KDM6B):c.2627G>C (p.Gly876Ala)
NM_001348716.2(KDM6B):c.2644C>T (p.Arg882Cys)
NM_001348716.2(KDM6B):c.2645G>A (p.Arg882His)
NM_001348716.2(KDM6B):c.2651C>G (p.Ala884Gly)
NM_001348716.2(KDM6B):c.2677A>G (p.Met893Val)
NM_001348716.2(KDM6B):c.2756G>A (p.Arg919Gln)
NM_001348716.2(KDM6B):c.2789G>A (p.Arg930Gln)
NM_001348716.2(KDM6B):c.2803C>T (p.Pro935Ser)
NM_001348716.2(KDM6B):c.2951G>A (p.Arg984Gln)
NM_001348716.2(KDM6B):c.2968T>C (p.Cys990Arg)
NM_001348716.2(KDM6B):c.3040A>G (p.Ser1014Gly)
NM_001348716.2(KDM6B):c.314C>G (p.Ala105Gly)
NM_001348716.2(KDM6B):c.3235C>G (p.Pro1079Ala)
NM_001348716.2(KDM6B):c.3350C>G (p.Thr1117Ser)
NM_001348716.2(KDM6B):c.3358G>A (p.Ala1120Thr)
NM_001348716.2(KDM6B):c.3367G>A (p.Val1123Met)
NM_001348716.2(KDM6B):c.3441-5C>T
NM_001348716.2(KDM6B):c.446G>C (p.Arg149Pro)
NM_001348716.2(KDM6B):c.457-6C>T
NM_001348716.2(KDM6B):c.4697G>A (p.Arg1566His)
NM_001348716.2(KDM6B):c.4703A>G (p.Lys1568Arg)
NM_001348716.2(KDM6B):c.4908+19C>T
NM_001348716.2(KDM6B):c.4909-24C>T
NM_001348716.2(KDM6B):c.4909-3dup rs2078746727
NM_001348716.2(KDM6B):c.660G>C (p.Glu220Asp)
NM_001348716.2(KDM6B):c.775C>T (p.Pro259Ser)
NM_001348716.2(KDM6B):c.823C>G (p.Gln275Glu)
NM_001348716.2(KDM6B):c.835C>T (p.Pro279Ser)
NM_001348716.2(KDM6B):c.848G>A (p.Ser283Asn)
NM_001348716.2(KDM6B):c.904C>T (p.Arg302Cys)
NM_001348716.2(KDM6B):c.961A>G (p.Thr321Ala)
NM_001348716.2(KDM6B):c.998C>G (p.Ala333Gly)

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