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Gene: DSPP & Disease: DTDP2, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16860	DSPP	c.2040delC	--	NM_014208.3 M	Del	P	1 +	1
16860	DSPP	c.2040del	p.Ser680fs (p.S680fs)	NM_014208.3 M	Del	P	1 +	1
16857	DSPP	c.16T>G	p.Tyr6Asp (p.Y6D)	NM_014208.3 M	SNV	P	1 +	1
548664	DSPP	c.3135del	p.Ser1045fs (p.S1045fs)	NM_014208.3 M	Del	LP	1 +	1
548664	DSPP	c.3135delC	--	NM_014208.3 M	Del	LP	1 +	1
548665	DSPP	c.3504_3508dup	p.Asp1170fs (p.D1170fs)	NM_014208.3 M	Dup	LP	1 +	1
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
2499474	DSPP	c.3239del	p.Asp1080fs (p.D1080fs)	NM_014208.3 M	Del	P	1 +	0
2499474	DSPP	c.3239delA	--	NM_014208.3 M	Del	P	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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