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Gene: SHANK2 & Disease: Rare Disease with Autism, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1339926	SHANK2	c.1924C>T	p.Arg642Ter (p.R642X)	NM_012309.5 M	SNV	P	2 +	0
1708216	SHANK2	c.4749_4753del	p.Pro1584fs (p.P1584fs)	NM_012309.5 M	Del	P	1 +	0
1339926	SHANK2	c.787C>T	p.Arg263Ter (p.R263X)	NM_001379226.1	SNV	P	2 +	0
1339926	SHANK2	c.160C>T	p.Arg54Ter (p.R54X)	NM_133266.5	SNV	P	2 +	0
1708216	SHANK2	c.3612_3616del	p.Pro1205fs (p.P1205fs)	NM_001379226.1	Del	P	1 +	0
1708216	SHANK2	c.2985_2989del	p.Pro996fs (p.P996fs)	NM_133266.5	Del	P	1 +	0

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