ClinVar Miner

List of variants studied for Costello syndrome by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004333.6(BRAF):c.1495A>C (p.Lys499Gln) rs180177037
NM_004333.6(BRAF):c.1661T>C (p.Ile554Thr) rs878854675
NM_005343.4(HRAS):c.188_230dup (p.Phe78fs) rs1589792614
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)

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