ClinVar Miner

List of variants reported as likely pathogenic for Fraser syndrome 1 by Molecular Genetics laboratory, Necker Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_025074.7(FRAS1):c.3631C>T (p.Gln1211Ter)	rs2110325478
NM_025074.7(FRAS1):c.5857-5A>G	rs1718842724
NM_025074.7(FRAS1):c.6342del (p.Met2115fs)	rs2109834757

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