ClinVar Miner

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

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Total variants: 7
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NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) rs1554015303
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.459-2A>G rs1561083229
NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) rs1561164598
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.7435_7436GA[2] (p.Arg2480fs) rs587784043

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