ClinVar Miner

List of variants studied for Cornelia de Lange syndrome by Center of Genomic medicine, Geneva,University Hospital of Geneva

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_006306.3(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.3(SMC1A):c.3373A>G (p.Met1125Val) rs1057519499
NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) rs866740147
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) rs587783978

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