ClinVar Miner

List of variants reported as likely pathogenic for Kabuki syndrome 2

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Total variants: 17
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NM_001291415.2(KDM6A):c.4101dup (p.Glu1368fs) rs1569542167
NM_021140.3(KDM6A):c.1425+1G>T rs1602799769
NM_021140.3(KDM6A):c.2832+2dup rs797045643
NM_021140.3(KDM6A):c.2938+2T>C rs1569537333
NM_021140.3(KDM6A):c.3144+1G>A rs1602928572
NM_021140.3(KDM6A):c.3458G>A (p.Cys1153Tyr) rs1556350571
NM_021140.3(KDM6A):c.3584C>T (p.Pro1195Leu) rs1602985802
NM_021140.3(KDM6A):c.3598C>T (p.Leu1200Phe) rs1060499665
NM_021140.3(KDM6A):c.3635A>G (p.Gln1212Arg) rs797045644
NM_021140.3(KDM6A):c.3736+2T>C rs793888510
NM_021140.3(KDM6A):c.3769G>T (p.Glu1257Ter) rs1556357274
NM_021140.3(KDM6A):c.3835C>T (p.Arg1279Ter) rs863224886
NM_021140.3(KDM6A):c.4161T>A (p.Tyr1387Ter) rs1603068073
NM_021140.3(KDM6A):c.752G>A (p.Trp251Ter) rs793888509

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