ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_005445.3(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_006265.2(RAD21):c.1352T>G (p.Leu451Arg) rs144953114
NM_006306.3(SMC1A):c.3186C>G (p.Ile1062Met)
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) rs1554034831

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