List of variants reported as likely pathogenic for Cornelia de Lange syndrome by Baylor Genetics

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del)	rs1564792181
NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr)	rs1564794233
NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe)	rs1564796294
NM_005445.4(SMC3):c.587T>C (p.Ile196Thr)	rs797045070
NM_006306.4(SMC1A):c.110G>T (p.Gly37Val)	rs1569359540
NM_006306.4(SMC1A):c.128A>T (p.Asp43Val)	rs1569359535
NM_006306.4(SMC1A):c.1546-2A>C
NM_006306.4(SMC1A):c.2420G>A (p.Arg807His)	rs1569356550
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)	rs1556886124
NM_006306.4(SMC1A):c.3196C>A (p.Arg1066Ser)
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)	rs587784422
NM_018486.3(HDAC8):c.527A>G (p.Asp176Gly)	rs1057518727
NM_018486.3(HDAC8):c.584T>A (p.Val195Asp)	rs1556009247
NM_018486.3(HDAC8):c.769C>T (p.Pro257Ser)	rs1602975455
NM_018486.3(HDAC8):c.793G>A (p.Gly265Arg)	rs1569318004
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro)	rs1561164598
NM_133433.4(NIPBL):c.5709+1G>A	rs587783979
NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro)	rs1561207924
NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr)	rs886042231

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