List of variants reported as likely pathogenic for Kabuki syndrome 1 by 3billion

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter)	rs2120477437
NM_003482.4(KMT2D):c.12291del (p.Pro4098fs)	rs2120431099
NM_003482.4(KMT2D):c.12902_12903insA (p.Leu4302fs)	rs2120424870
NM_003482.4(KMT2D):c.14382+1G>A	rs1555186428
NM_003482.4(KMT2D):c.14502dup (p.Ala4835fs)	rs2120378003
NM_003482.4(KMT2D):c.177-2A>G	rs2120713788
NM_003482.4(KMT2D):c.2188G>T (p.Glu730Ter)
NM_003482.4(KMT2D):c.4419-2A>C	rs2120606259
NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter)	rs192216625
NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs)	rs2498400647

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