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Mutation Direct

Effortless mutation search and display tool

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Gene: MINPP1 & Disease: PCH, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1300179	MINPP1	c.1027_1028del	p.Ile343fs (p.I343fs)	NM_004897.5 M	MS	P	2 +	1
	MINPP1	c.424_425del	p.Ile142fs (p.I142fs)	NM_001178118.2	MS	P	2 +	1
	MINPP1	c.835+12596_835+12597del	--	NM_001178117.2	MS	P	2 +	1

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