ClinVar Miner

List of variants in gene KDM6A reported as pathogenic for not provided

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Gene type:
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Total variants: 34
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xp11.3(chrX:44715970-44741826)x0
GRCh37/hg19 Xp11.3(chrX:44773319-44909637)x1
NM_001291415.2(KDM6A):c.1579C>T (p.Gln527Ter) rs2044282736
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter) rs2044403163
NM_001291415.2(KDM6A):c.2067_2074del (p.Asn690fs) rs1602822117
NM_001291415.2(KDM6A):c.2079+1G>T rs2044409446
NM_001291415.2(KDM6A):c.2128C>T (p.Arg710Ter) rs755440519
NM_001291415.2(KDM6A):c.2306dup (p.Ser770fs) rs886041452
NM_001291415.2(KDM6A):c.2328_2329del (p.Leu777fs)
NM_001291415.2(KDM6A):c.2482_2485del (p.Asp828fs) rs886039398
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.2(KDM6A):c.2986dup (p.Tyr996fs) rs886041899
NM_001291415.2(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.2(KDM6A):c.3138del (p.Asn1046fs) rs2148118664
NM_001291415.2(KDM6A):c.3239del (p.Ser1080fs)
NM_001291415.2(KDM6A):c.3341_3344del (p.Asp1114fs) rs1556346208
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr) rs1556350571
NM_001291415.2(KDM6A):c.3626dup (p.Asn1210fs) rs1602965271
NM_001291415.2(KDM6A):c.3793C>T (p.Arg1265Ter) rs2148193855
NM_001291415.2(KDM6A):c.3892+1G>T
NM_001291415.2(KDM6A):c.3953C>A (p.Ser1318Ter) rs1556357314
NM_001291415.2(KDM6A):c.398T>G (p.Leu133Ter) rs1556115974
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.4034+3_4034+6del
NM_001291415.2(KDM6A):c.4060C>T (p.Gln1354Ter) rs1556375815
NM_001291415.2(KDM6A):c.4134_4137del (p.Pro1379fs) rs1064793351
NM_001291415.2(KDM6A):c.4161+5_4161+8del rs886041946
NM_001291415.2(KDM6A):c.493C>T (p.Arg165Ter) rs912069418
NM_001291415.2(KDM6A):c.520G>A (p.Gly174Arg)
NM_001291415.2(KDM6A):c.619+4_619+7del rs2147777529
NM_001291415.2(KDM6A):c.655-2371_782del
NM_001291415.2(KDM6A):c.705_706del (p.Asn236fs)
NM_001291415.2(KDM6A):c.962G>A (p.Trp321Ter)

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