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Mutation Direct

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Gene: SOST & Disease: SOST1, 50 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4785	SOST	c.372G>A	p.Trp124Ter (p.W124X)	NM_025237.3 M	SNV	P	1 +	3
1342988	SOST	c.69C>T	p.Gly23= (p.G23=)	NM_025237.3 M	SNV	VUS	1 +	2
1342989	SOST	c.444_445delinsAA	p.Cys148_Pro149delinsTer	NM_025237.3 M	Indel	VUS	1 +	2
1342990	SOST	c.79C>T	p.Gln27Ter (p.Q27X)	NM_025237.3 M	SNV	VUS	1 +	2
1342991	SOST	c.87dup	p.Lys30fs (p.K30fs)	NM_025237.3 M	Dup	P	1 +	2
1342992	SOST	c.220+1G>C	--	NM_025237.3 M	SNV	VUS	1 +	2
1342993	SOST	c.296dup	p.Val100fs (p.V100fs)	NM_025237.3 M	Dup	VUS	1 +	2
1342994	SOST	c.371G>A	p.Trp124Ter (p.W124X)	NM_025237.3 M	SNV	VUS	1 +	2
4786	SOST	c.376C>T	p.Arg126Ter (p.R126X)	NM_025237.3 M	SNV	P	1 +	2
1327523	SOST	c.220+3A>T	--	NM_025237.3 M	SNV	VUS	1 +	2
888899	SOST	c.303C>T	p.Thr101= (p.T101=)	NM_025237.3 M	SNV	LB	1 +	1
1676279	SOST	c.499T>C	p.Cys167Arg (p.C167R)	NM_025237.3 M	SNV	VUS	1 +	1
4783	SOST	c.70C>T	p.Gln24Ter (p.Q24X)	NM_025237.3 M	SNV	P	1 +	1
890596	SOST	c.56G>A	p.Arg19His (p.R19H)	NM_025237.3 M	SNV	LB	1 +	1
764169	SOST	c.177G>A	p.Ala59= (p.A59=)	NM_025237.3 M	SNV	LB	1 +	1
323440	SOST	c.153G>A	p.Glu51= (p.E51=)	NM_025237.3 M	SNV	LB	1 +	1
323442	SOST	c.28G>A	p.Val10Ile (p.V10I)	NM_025237.3 M	SNV	B	1 +	1
2583091	SOST	c.327C>A	p.Cys109Ter (p.C109X)	NM_025237.3 M	SNV	LP	1 +	1
888898	SOST	c.448G>A	p.Gly150Ser (p.G150S)	NM_025237.3 M	SNV	VUS	1 +	0
888900	SOST	c.143C>T	p.Pro48Leu (p.P48L)	NM_025237.3 M	SNV	VUS	1 +	0

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