ClinVar Miner

List of variants reported as likely pathogenic for Fraser syndrome 1 by Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-Ferrand

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_025074.7(FRAS1):c.8604+5G>A rs200282443 0.00003
NM_025074.7(FRAS1):c.11445+5_11445+11delinsC rs1721982733

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