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Gene: NF1 & Disease: ES, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
185082	NF1	c.6855C>A	p.Tyr2285Ter (p.Y2285X)	NM_001042492.3 M	SNV	P	7 +	25
185082	NF1	c.6792C>A	p.Tyr2264Ter (p.Y2264X)	NM_000267.3	SNV	P	7 +	25
690368	NF1	c.7186A>T	p.Lys2396Ter (p.K2396X)	NM_001042492.3 M	SNV	P	2 +	3
690368	NF1	c.7123A>T	p.Lys2375Ter (p.K2375X)	NM_000267.3	SNV	P	2 +	3

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