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Gene: DSPP & Disease: DGI3, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16856	DSPP	c.52G>T	p.Val18Phe (p.V18F)	NM_014208.3 M	SNV	P	3 +	3
1339490	DSPP	c.1874_1877del	p.Asp625fs (p.D625fs)	NM_014208.3 M	Del	LP	1 +	0
260353	DSPP	c.*17G>A	--	NM_014208.3 M	SNV	B	5 +	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
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
1679356	DSPP	c.3565_3566insCAGCAGCGATA	p.Ser1189fs (p.S1189fs)	NM_014208.3 M	Ins	LP	1 +	0

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