ClinVar Miner

List of variants reported as likely pathogenic for Costello syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005343.4(HRAS):c.175_176delinsCT (p.Ala59Leu) rs727504747
NM_005343.4(HRAS):c.35_36delinsAA (p.Gly12Glu) rs727503094
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757

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