ClinVar Miner

List of variants studied for Costello syndrome by ClinGen RASopathy Variant Curation Expert Panel

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Total variants: 4

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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.173C>T (p.Thr58Ile)	rs121917758
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)	rs104894227

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