ClinVar Miner

List of variants reported as uncertain significance for Stromme syndrome by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_016343.4(CENPF):c.2010G>T (p.Met670Ile)
NM_016343.4(CENPF):c.346C>G (p.Gln116Glu)	rs2102531522
NM_016343.4(CENPF):c.4925G>A (p.Arg1642Gln)
NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)

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