ClinVar Miner

List of variants reported as pathogenic for Levy-Hollister syndrome by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn) rs1453271838 0.00001
NM_000141.5(FGFR2):c.1882G>A (p.Ala628Thr) rs121918509
NM_000141.5(FGFR2):c.1942G>A (p.Ala648Thr) rs121918508
NM_000141.5(FGFR2):c.1947_1949del (p.Arg649_Asp650delinsSer) rs879253720

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