ClinVar Miner

List of variants in gene KDM6A reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) rs147633358 0.00021
NM_001291415.2(KDM6A):c.3348A>G (p.Glu1116=) rs375622972 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
GRCh37/hg19 Xp11.3(chrX:44820529-44950109)x3
NM_001291415.2(KDM6A):c.1106A>G (p.Gln369Arg) rs1335822460
NM_001291415.2(KDM6A):c.1474A>G (p.Ser492Gly)
NM_001291415.2(KDM6A):c.1515T>A (p.His505Gln) rs2147975479
NM_001291415.2(KDM6A):c.1997C>T (p.Ala666Val)
NM_001291415.2(KDM6A):c.2079+1G>T rs2044409446
NM_001291415.2(KDM6A):c.2111C>T (p.Ala704Val)
NM_001291415.2(KDM6A):c.211G>A (p.Ala71Thr)
NM_001291415.2(KDM6A):c.2140T>C (p.Ser714Pro) rs1569535415
NM_001291415.2(KDM6A):c.2328_2329del (p.Leu777fs)
NM_001291415.2(KDM6A):c.2333C>T (p.Thr778Met) rs2230018
NM_001291415.2(KDM6A):c.235T>C (p.Cys79Arg) rs1569483946
NM_001291415.2(KDM6A):c.2493G>A (p.Gln831=)
NM_001291415.2(KDM6A):c.24C>T (p.Leu8=) rs2031055969
NM_001291415.2(KDM6A):c.271G>T (p.Val91Leu)
NM_001291415.2(KDM6A):c.3165G>T (p.Gln1055His)
NM_001291415.2(KDM6A):c.322G>A (p.Asp108Asn) rs1569484132
NM_001291415.2(KDM6A):c.3697T>C (p.Cys1233Arg)
NM_001291415.2(KDM6A):c.3730T>A (p.Ser1244Thr) rs1602985775
NM_001291415.2(KDM6A):c.3991C>T (p.Arg1331Ter) rs863224886
NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup) rs749062014
NM_001291415.2(KDM6A):c.815A>G (p.Tyr272Cys) rs587778421
NM_001291415.2(KDM6A):c.876-1G>A

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