ClinVar Miner

List of variants reported as uncertain significance for Cornelia de Lange syndrome 1 by Invitae

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Total variants: 15
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NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589

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