List of variants in gene ACTN1 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met)	rs1594771155
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.1640T>C (p.Leu547Pro)	rs1594756590
NM_001130004.2(ACTN1):c.1770C>A (p.Asn590Lys)	rs867564562
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)	rs372031019
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	rs387907349
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	rs387907345
NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)	rs1594773549

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