ClinVar Miner

List of variants in gene combination ABI1, PDSS1 reported as likely benign for Deafness-encephaloneuropathy-obesity-valvulopathy syndrome

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_014317.5(PDSS1):c.*157T>G rs1046187 0.02265
NM_014317.5(PDSS1):c.*264A>T rs144623506 0.00283

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