ClinVar Miner

List of variants studied for RASopathy by New York Genome Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002880.4(RAF1):c.884G>C (p.Ser295Thr)	rs191560404	0.00001
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	rs397507517

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