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Gene: DSP & Disease: SCD, 9 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
44980	DSP	c.889G>A	p.Asp297Asn (p.D297N)	NM_004415.4 M	SNV	LB	6 +	3
	DSP	c.889G>A	p.Asp297Asn (p.D297N)	NM_001008844.3	SNV	LB	6 +	3
	DSP	c.889G>A	p.Asp297Asn (p.D297N)	NM_001319034.2	SNV	LB	6 +	3
418788	DSP	c.1054_1059delinsCA	p.Asp352fs (p.D352fs)	NM_004415.4 M	Indel	P	2 +	0
374137	DSP	c.2528C>A	p.Ser843Ter (p.S843X)	NM_004415.4 M	SNV	P	2 +	0
418788	DSP	c.1054_1059delinsCA	p.Asp352fs (p.D352fs)	NM_001008844.3	Indel	P	2 +	0
418788	DSP	c.1054_1059delinsCA	p.Asp352fs (p.D352fs)	NM_001319034.2	Indel	P	2 +	0
374137	DSP	c.2528C>A	p.Ser843Ter (p.S843X)	NM_001008844.3	SNV	P	2 +	0
374137	DSP	c.2528C>A	p.Ser843Ter (p.S843X)	NM_001319034.2	SNV	P	2 +	0

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