List of variants reported as pathogenic for Kabuki syndrome 2 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)	rs397514628
NM_001291415.2(KDM6A):c.2065_2068del (p.Ser689fs)	rs398122969
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs)	rs786205676
NM_001291415.2(KDM6A):c.3507TCT[1] (p.Leu1171del)	rs398122829
NM_001291415.2(KDM6A):c.3873G>A (p.Trp1291Ter)	rs398122929
nsv1067838

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