ClinVar Miner

List of variants studied for Costello syndrome by Revvity Omics, Revvity

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005343.4(HRAS):c.31G>A (p.Ala11Thr) rs727504496 0.00001
NM_005343.4(HRAS):c.546G>A (p.Met182Ile) rs748639813 0.00001
NM_005343.4(HRAS):c.238T>A (p.Cys80Ser) rs1370566417
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.424A>C (p.Ile142Leu) rs1564788848
NM_005343.4(HRAS):c.517C>T (p.Pro173Ser) rs1851178613

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