ClinVar Miner

List of variants reported as likely benign for Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1017T>C (p.Cys339=)	rs11828047	0.00874
NM_207122.2(EXT2):c.1527A>G (p.Leu509=)	rs145649534	0.00036
NM_207122.2(EXT2):c.519G>C (p.Ala173=)	rs148121594

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