ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006306.4(SMC1A):c.2035G>T (p.Glu679Ter) rs1569356968
NM_018486.3(HDAC8):c.356C>G (p.Thr119Arg) rs587779380
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) rs398124465
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) rs587784036

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