ClinVar Miner

List of variants reported as uncertain significance for Holt-Oram syndrome by Revvity Omics, Revvity

Included ClinVar conditions (2):

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_181486.4(TBX5):c.895G>A (p.Gly299Ser)	rs201637366	0.00003
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys)	rs973621936	0.00001
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)

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