ClinVar Miner

List of variants studied for Beckwith-Wiedemann syndrome by Genetics and Molecular Pathology Laboratory,Hudson Institute of Medical Research

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001130823.1(DNMT1):c.3353A>G (p.His1118Arg) rs150331990
NM_001130823.2(DNMT1):c.3668G>A (p.Arg1223His) rs757460628
NM_001130823.2(DNMT1):c.406C>T (p.Arg136Cys) rs138841970

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