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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_001130004.1(ACTN1):c.[2156A>C;2157G>C]
NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)	rs1594768463
NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)	rs769375482
NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val)	rs1594760140
NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)	rs1594760036
NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His)	rs751173836
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.1592A>T (p.Asp531Val)	rs1594758046
NM_001130004.2(ACTN1):c.1592_1593insGGGGCCATGGAG (p.Asp531delinsGluGlyProTrpSer)	rs1594758038
NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)	rs1594755688
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)	rs372031019
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)	rs1555343284
NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)	rs2140067871
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)	rs1594751659
NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)
NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)	rs192640536
NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp)	rs2140302263
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)	rs1594773549
NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu)	rs1594771270
NM_001130004.2(ACTN1):c.982G>A (p.Val328Met)	rs1594771236
NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg)	rs1594771224

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