List of variants studied for Cornelia de Lange syndrome 1 by Baylor Genetics

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys)	rs1743404672
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)	rs1554015303
NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys)	rs1744586399
NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr)	rs762097133
NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer)
NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg)	rs1744681690
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)	rs398124465
NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter)
NM_133433.4(NIPBL):c.459-2A>G	rs1561083229
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
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)	rs587784043
NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly)	rs1754386332
NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu)

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