ClinVar Miner

List of variants in gene KDM6A reported as pathogenic for Kabuki syndrome 2

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Total variants: 15
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HGVS dbSNP
NM_001291415.1(KDM6A):c.1548_1551TCAT[3] (p.Trp519fs) rs1556311265
NM_001291415.1(KDM6A):c.1699del (p.Val567fs) rs797045642
NM_001291415.1(KDM6A):c.1711C>T (p.Arg571Ter) rs397514628
NM_001291415.1(KDM6A):c.2065_2068del (p.Ser689fs) rs398122969
NM_001291415.1(KDM6A):c.2257_2258TC[4] (p.His754fs) rs1556328781
NM_001291415.1(KDM6A):c.2618_2619del (p.Ser873fs) rs1556330304
NM_001291415.1(KDM6A):c.2671_2674del (p.Asn891fs) rs786205676
NM_001291415.1(KDM6A):c.2802_2803dup (p.Pro935fs)
NM_001291415.1(KDM6A):c.2988+1G>A rs1135401809
NM_001291415.1(KDM6A):c.2988+1G>C rs1135401809
NM_001291415.1(KDM6A):c.3172C>T (p.Gln1058Ter) rs1556341546
NM_001291415.1(KDM6A):c.3507_3509TCT[1] (p.Leu1171del) rs398122829
NM_001291415.1(KDM6A):c.3873G>A (p.Trp1291Ter) rs398122929
NM_001291415.1(KDM6A):c.4207C>T (p.Arg1403Ter)
nsv1067838

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