ClinVar Miner

List of variants in gene ACTG1 studied for obsolete rare genetic deafness

Included ClinVar conditions (7):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp)	rs113262912
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln)	rs1555666715
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys)	rs267606631

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