List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)	rs1471479119	0.00001
NM_003482.4(KMT2D):c.1223_1229dup (p.Pro411fs)	rs1938142007
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)	rs2147938135
NM_015100.4(POGZ):c.7del (p.Asp3fs)
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter)	rs1570938113
NM_031263.4(HNRNPK):c.620_637del (p.Lys207_Leu212del)

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