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Gene: ACTN2 & Disease: DCM, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
18313	ACTN2	c.26A>G	p.Gln9Arg (p.Q9R)	NM_001103.4 M	SNV	P	5 +	6
162727	ACTN2	c.355G>A	p.Ala119Thr (p.A119T)	NM_001103.4 M	SNV	P	4 +	6
18313	ACTN2	c.26A>G	p.Gln9Arg (p.Q9R)	NM_001278343.2	SNV	P	5 +	6
162727	ACTN2	c.355G>A	p.Ala119Thr (p.A119T)	NM_001278343.2	SNV	P	4 +	6
412276	ACTN2	c.2423C>T	p.Thr808Ile (p.T808I)	NM_001103.4 M	SNV	LB	5 +	0
684853	ACTN2	c.2596A>T	p.Met866Leu (p.M866L)	NM_001103.4 M	SNV	VUS	6 +	0
684560	ACTN2	c.431A>T	p.Gln144Leu (p.Q144L)	NM_001103.4 M	SNV	VUS	2 +	0
412276	ACTN2	c.2423C>T	p.Thr808Ile (p.T808I)	NM_001278343.2	SNV	LB	5 +	0
684853	ACTN2	c.2596A>T	p.Met866Leu (p.M866L)	NM_001278343.2	SNV	VUS	6 +	0
684560	ACTN2	c.431A>T	p.Gln144Leu (p.Q144L)	NM_001278343.2	SNV	VUS	2 +	0

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