ClinVar Miner

List of variants reported as pathogenic by Center for Molecular Medicine, Karolinska Institute

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000977.4(RPL13):c.477+1G>T	rs1597675888
NM_000977.4(RPL13):c.533C>A (p.Ala178Asp)	rs934768094
NM_000977.4(RPL13):c.553G>C (p.Ala185Pro)	rs2058757423

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