List of variants reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001101.5(ACTB):c.193C>T (p.Leu65Phe)	rs281875332
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)	rs61751370
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	rs180177042
NM_004380.3(CREBBP):c.5836_5837del (p.Pro1946fs)
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)	rs1555528356
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)	rs2108490656
NM_024757.5(EHMT1):c.3180+1G>A
NM_153816.6(SNX14):c.2506G>T (p.Glu836Ter)
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His)	rs1135401758

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