ClinVar Miner

List of variants reported as uncertain significance for Seizures-scoliosis-macrocephaly syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln)	rs138187791	0.00113
NM_207122.2(EXT2):c.571A>G (p.Met191Val)	rs1324170921

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