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Gene: VHL & Disease: Multiple Enchondromatosis, Maffucci Type, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
220627	VHL	c.628C>T	p.Arg210Trp (p.R210W)	NM_000551.4 M	SNV	LP	3 +	3
	VHL	c.*182C>T	--	NM_001354723.2	SNV	LP	3 +	3
	VHL	c.505C>T	p.Arg169Trp (p.R169W)	NM_198156.3	SNV	LP	3 +	3
93330	VHL	c.74C>T	p.Pro25Leu (p.P25L)	NM_000551.4 M	SNV	LP	3 +	2
	VHL	c.74C>T	p.Pro25Leu (p.P25L)	NM_001354723.2	SNV	LP	3 +	2
	VHL	c.74C>T	p.Pro25Leu (p.P25L)	NM_198156.3	SNV	LP	3 +	2

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