ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_001197104.1(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_005445.3(SMC3):c.2536-5_2541del rs727503775
NM_006306.3(SMC1A):c.2974-2A>G rs727503774
NM_006306.3(SMC1A):c.796_798AAG[2] (p.Lys268del) rs727503773
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
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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