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Gene: DSPP & Disease: DFNA39/DGI1, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
260353	DSPP	c.*17G>A	--	NM_014208.3 M	SNV	B	5 +	0
260354	DSPP	c.1060C>T	p.Arg354Cys (p.R354C)	NM_014208.3 M	SNV	LB	1 +	0
260356	DSPP	c.136-33T>C	--	NM_014208.3 M	SNV	B	5 +	0
260359	DSPP	c.897A>G	p.Ser299= (p.S299=)	NM_014208.3 M	SNV	B	5 +	0
817628	DSPP	c.2525del	p.Ser842fs (p.S842fs)	NM_014208.3 M	Del	P	5 +	0
817628	DSPP	c.2525delG	--	NM_014208.3 M	Del	P	5 +	0
834048	DSPP	c.368_371delinsAACATATGTTCATCATGGGAAAGAAGAAA	p.Gly123fs (p.G123fs)	NM_014208.3 M	Indel	LP	1 +	0
834048	DSPP	c.368_371delGAATinsAACATATGTTCATCATGGGAAAGAAGAAA	--	NM_014208.3 M	Indel	LP	1 +	0
627439	DSPP	c.3248_3249insC	p.Glu1083fs (p.E1083fs)	NM_014208.3 M	Ins	LP	1 +	0
523082	DSPP	c.3681C>A	p.Asp1227Glu (p.D1227E)	NM_014208.3 M	SNV	LB	1 +	0
1696681	DSPP	c.1661G>A	p.Ser554Asn (p.S554N)	NM_014208.3 M	SNV	VUS	1 +	0
689607	DSPP	c.1031C>A	p.Thr344Asn (p.T344N)	NM_014208.3 M	SNV	LB	1 +	0
1031808	DSPP	c.1847G>A	p.Ser616Asn (p.S616N)	NM_014208.3 M	SNV	VUS	1 +	0
982865	DSPP	c.3535_3537delinsGAC	p.Asn1179Asp (p.N1179D)	NM_014208.3 M	Indel	VUS	5 +	0
982865	DSPP	c.3535_3537delAATinsGAC	--	NM_014208.3 M	Indel	VUS	5 +	0
1691573	DSPP	c.981G>T	p.Glu327Asp (p.E327D)	NM_014208.3 M	SNV	VUS	5 +	0

16 Results, 20 per Page

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