List of variants reported as likely pathogenic for Kabuki syndrome 2 by Invitae

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.3366-1G>A	rs1374292312	0.00001
NM_001291415.2(KDM6A):c.1581+1G>T	rs1602799769
NM_001291415.2(KDM6A):c.1683+1G>T
NM_001291415.2(KDM6A):c.2079+1G>A
NM_001291415.2(KDM6A):c.3094+2T>C	rs1569537333
NM_001291415.2(KDM6A):c.3300+1G>A	rs1602928572
NM_001291415.2(KDM6A):c.3301-2A>G	rs1195711941
NM_001291415.2(KDM6A):c.334+1G>A
NM_001291415.2(KDM6A):c.3614G>A (p.Cys1205Tyr)	rs1556350571
NM_001291415.2(KDM6A):c.3740C>T (p.Pro1247Leu)	rs1602985802

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