ClinVar Miner

List of variants reported as likely pathogenic by Dept of Pediatric nervous, The Second Affiliated Hospital Zhejiang University School of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)
NM_014927.5(CNKSR2):c.1657+1G>A
NM_025237.3(SOST):c.327C>A (p.Cys109Ter)

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