ClinVar Miner

List of variants reported as uncertain significance 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: 6
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NM_001281463.1(SMC1A):c.3120C>G (p.Ile1040Met) rs372307204
NM_005445.3(SMC3):c.1451C>G (p.Ala484Gly) rs758758728
NM_006265.2(RAD21):c.1352T>G (p.Leu451Arg) rs144953114
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)

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