List of variants in gene ACTA1 reported as uncertain significance for cardiomyopathy

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: 19

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HGVS	dbSNP	gnomAD frequency
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.786G>C (p.Thr262=)	rs141030526	0.00034
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)	rs140074813	0.00009
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)	rs371410845	0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA	rs749384329	0.00003
NM_001100.4(ACTA1):c.809-16_809-15insG	rs746125735	0.00002
NM_001100.4(ACTA1):c.*66G>A	rs1403018747	0.00001
NM_001100.4(ACTA1):c.454+3G>T	rs200976037	0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)	rs770931836	0.00001
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)	rs143948837
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)	rs886046075
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)	rs1659932688
NM_001100.4(ACTA1):c.129+14T>C	rs886046076
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)	rs76030344
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)	rs1571893385
NM_001100.4(ACTA1):c.809-13_809-12dup	rs201427429
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)	rs1553255533
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)	rs765996798

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