ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome 2 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_006306.3(SMC1A):c.2368C>T (p.Arg790Trp) rs587784412
NM_006306.3(SMC1A):c.3056_3082delinsTGCAG (p.Arg1019fs) rs1556886127
NM_006306.3(SMC1A):c.3254A>G (p.Tyr1085Cys) rs587784418
NM_006306.3(SMC1A):c.3461T>A (p.Val1154Asp) rs1569351534
NM_006306.3(SMC1A):c.3652_3663del (p.Phe1218_Thr1221del) rs1569351341

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