ClinVar Miner

List of variants in gene ACTN2 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)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)	rs146164600	0.00014
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile)	rs148833906

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