ClinVar Miner

List of variants in gene TBX1 reported as uncertain significance by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg)	rs541198585	0.00005
NM_001379200.1(TBX1):c.1401C>G (p.Pro467=)	rs753192876	0.00003

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