ClinVar Miner

List of variants reported as uncertain significance for Beckwith-Wiedemann syndrome by New York Genome Center

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg)	rs1377428359	0.00002
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile)	rs2133785866

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