List of variants in gene ACTA1 reported as benign for congenital myopathy

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: 20

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HGVS	dbSNP	gnomAD frequency
NM_001100.4(ACTA1):c.455-53A>C	rs527621	0.99850
NM_001100.4(ACTA1):c.130-5T>C	rs11803533	0.26938
NM_001100.4(ACTA1):c.130-10G>C	rs41271481	0.20670
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)	rs74897770	0.01920
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)	rs76030344	0.00904
NM_001100.4(ACTA1):c.617-5C>T	rs199804338	0.00399
NM_001100.4(ACTA1):c.*248G>A	rs551585351	0.00167
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)	rs146956806	0.00066
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)	rs142311664	0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)	rs141030526	0.00034
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)	rs200094415	0.00027
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	rs770931836	0.00001
NM_001100.4(ACTA1):c.129+16C>T	rs148084911
NM_001100.4(ACTA1):c.130-20G>T	rs201437341
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	rs76030344
NM_001100.4(ACTA1):c.454+15C>T	rs201388631
NM_001100.4(ACTA1):c.809-13dup	rs201427429
NM_001100.4(ACTA1):c.809-14G>C	rs6673359
NM_001100.4(ACTA1):c.809-18dup	rs398123565
NM_001100.4(ACTA1):c.809-3del

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