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Mutation Direct

Effortless mutation search and display tool

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Gene: SNAP29 & Disease: HLD2, 2 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
279932	SNAP29	c.354dup	p.Leu119fs (p.L119fs)	NM_004782.4 M	Dup	P	2 +	5
279894	SNAP29	c.2T>C	p.Met1Thr (p.M1T)	NM_004782.4 M	SNV	P	2 +	2

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