ClinVar Miner

List of variants studied for Cornelia de Lange syndrome 2 by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_006306.3(SMC1A):c.110G>T (p.Gly37Val) rs1569359540
NM_006306.3(SMC1A):c.1114-2A>G rs1569358628
NM_006306.3(SMC1A):c.116C>G (p.Ser39Ter) rs1057518670
NM_006306.3(SMC1A):c.128A>T (p.Asp43Val) rs1569359535
NM_006306.3(SMC1A):c.140T>G (p.Phe47Cys) rs1569359530
NM_006306.3(SMC1A):c.1487G>A (p.Arg496His) rs122454123
NM_006306.3(SMC1A):c.2394dup (p.Arg799fs) rs1569356555
NM_006306.3(SMC1A):c.2420G>A (p.Arg807His) rs1569356550
NM_006306.3(SMC1A):c.2547del (p.Ile849fs) rs797045069
NM_006306.3(SMC1A):c.2853_2856del (p.Ser951fs) rs863225458
NM_006306.3(SMC1A):c.298G>C (p.Gly100Arg) rs1569359487
NM_006306.3(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006306.3(SMC1A):c.655del (p.Ala219fs) rs1569359048
NM_006306.3(SMC1A):c.796_798AAG[2] (p.Lys268del) rs727503773

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