ClinVar Miner

List of variants reported as likely pathogenic for Costello syndrome by Invitae

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.171_185dup (p.Asp57_Gln61dup) rs2133990973
NM_005343.4(HRAS):c.178G>A (p.Gly60Ser) rs1589792804
NM_005343.4(HRAS):c.37G>A (p.Gly13Ser) rs104894228
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759

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