ClinVar Miner

List of variants studied for IMAGe syndrome by Pediatrics, Sichuan Provincial Hospital For Women And Children

Included ClinVar conditions (3):

Beckwith-Wiedemann syndrome; IMAGe syndrome
IMAGe syndrome
IMAGe syndrome; Beckwith-Wiedemann syndrome due to CDKN1C mutation

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs)	rs2133784748

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