ClinVar Miner

List of variants reported as uncertain significance for Costello syndrome by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.508A>T (p.Lys170Ter) rs372936166 0.00005
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949 0.00001

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