List of variants in gene ACTN1 reported as pathogenic for blood platelet disease

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	rs387907347	0.00001
NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	rs387907350	0.00001
NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)	rs1594768482
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)	rs1594760036
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)	rs747559032
NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	rs387907348
NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	rs1383792017
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	rs387907349
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)	rs2140067871
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	rs387907345
NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys)	rs2140302103
NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys)	rs387907346

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