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Mutation Direct

Effortless mutation search and display tool

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Gene: SMAD6 & Disease: Polydactyly, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1174559	SMAD6	c.2T>C	p.Met1Thr (p.M1T)	NM_005585.5 M	SNV	P	3 +	1
1174576	SMAD6	c.1227del	p.Ile410fs (p.I410fs)	NM_005585.5 M	Del	P	3 +	0
1174576	SMAD6	c.1224delC	--	NM_005585.5 M	Del	P	3 +	0

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