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Gene: SCN1B & Disease: SCD, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9255	SCN1B	c.259G>C	p.Glu87Gln (p.E87Q)	NM_001037.5 M	SNV	P	2 +	1
9256	SCN1B	c.448+89G>A	--	NM_001037.5 M	SNV	P	2 +	1
9255	SCN1B	c.160G>C	p.Glu54Gln (p.E54Q)	NM_001321605.2	SNV	P	2 +	1
9255	SCN1B	c.259G>C	p.Glu87Gln (p.E87Q)	NM_199037.5	SNV	P	2 +	1
9256	SCN1B	c.537G>A	p.Trp179Ter (p.W179X)	NM_199037.5	SNV	P	2 +	1
9256	SCN1B	c.349+89G>A	--	NM_001321605.2	SNV	P	2 +	1

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