List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Institute of Human Genetics, University Hospital Muenster

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017934.7(PHIP):c.499A>G (p.Thr167Ala)	rs748247534	0.00005
NM_176787.5(PIGN):c.1674+1G>C	rs376355678	0.00004
NM_001197104.2(KMT2A):c.6650G>A (p.Arg2217Lys)	rs782483583	0.00002
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)	rs190925539	0.00001
NM_014795.4(ZEB2):c.1100C>A (p.Thr367Asn)	rs1180969206	0.00001
NM_001374353.1(GLI2):c.1571A>T (p.Asn524Ile)	rs2105064513
NM_001374828.1(ARID1B):c.6362_6363del (p.Glu2121fs)
NM_006662.3(SRCAP):c.7864C>T (p.Gln2622Ter)	rs2151300418
NM_015570.4(AUTS2):c.390_393dup (p.Gly132fs)

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