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Gene: SMAD9 & Disease: Pulmonary Arterial Hypertension Associated with Congenital Heart Disease, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
548690	SMAD9	c.204C>A	p.Cys68Ter (p.C68X)	NM_001127217.3 M	SNV	P	1 +	1
548691	SMAD9	c.1156A>G	p.Asn386Asp (p.N386D)	NM_001127217.3 M	SNV	VUS	2 +	1
548690	SMAD9	c.204C>A	p.Cys68Ter (p.C68X)	NM_001378621.1	SNV	P	1 +	1
548690	SMAD9	c.204C>A	p.Cys68Ter (p.C68X)	NM_005905.6	SNV	P	1 +	1
548691	SMAD9	c.1045A>G	p.Asn349Asp (p.N349D)	NM_001378621.1	SNV	VUS	2 +	1
548691	SMAD9	c.1045A>G	p.Asn349Asp (p.N349D)	NM_005905.6	SNV	VUS	2 +	1

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