ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 1 by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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Total variants: 12
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NM_005933.4(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) rs727503766
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) rs727503771
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) rs727503778

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