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Gene: BMP2 & Disease: SSFSC2, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
816934	BMP2	c.508C>T	p.Arg170Ter (p.R170X)	NM_001200.4 M	SNV	P	1 +	4
195136	BMP2	c.261A>G	p.Ser87= (p.S87=)	NM_001200.4 M	SNV	B	1 +	2
196322	BMP2	c.570A>T	p.Arg190Ser (p.R190S)	NM_001200.4 M	SNV	B	1 +	2
828025	BMP2	c.939G>A	p.Trp313Ter (p.W313X)	NM_001200.4 M	SNV	LP	1 +	1
388927	BMP2	c.460C>T	p.Arg154Ter (p.R154X)	NM_001200.4 M	SNV	P	1 +	1
492934	BMP2	c.79G>T	p.Glu27Ter (p.E27X)	NM_001200.4 M	SNV	P	2 +	1
492937	BMP2	c.987C>A	p.Cys329Ter (p.C329X)	NM_001200.4 M	SNV	P	2 +	1

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