ClinVar Miner

List of variants reported as uncertain significance for chromosome 22q deletion by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (8):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.351C>T (p.Ala117=)	rs757290764	0.00002
NM_001379200.1(TBX1):c.1073C>G (p.Ala358Gly)	rs1452987245
NM_001379200.1(TBX1):c.823G>A (p.Glu275Lys)	rs144848597

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