ClinVar Miner

List of variants studied for IMAGe syndrome by Baylor Genetics

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
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.-11+61G>A	rs188494894	0.00603
NM_001122630.2(CDKN1C):c.316C>T (p.Pro106Ser)	rs570636789	0.00004
NM_001122630.2(CDKN1C):c.*5+1G>A

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