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Gene: PMM2 & Disease: CHEGDD, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7706	PMM2	c.422G>A	p.Arg141His (p.R141H)	NM_000303.3 M	SNV	P	10 +	34
7723	PMM2	c.338C>T	p.Pro113Leu (p.P113L)	NM_000303.3 M	SNV	P	6 +	12
21143	PMM2	c.415G>A	p.Glu139Lys (p.E139K)	NM_000303.3 M	SNV	P	2 +	8
812999	PMM2	c.584A>G	p.His195Arg (p.H195R)	NM_000303.3 M	SNV	LP	4 +	1

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