ClinVar Miner

List of variants in gene FGFR2 studied for Levy-Hollister syndrome

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.*736dup rs886046762 0.00005
NM_000141.5(FGFR2):c.*1498_*1502del rs566259479
NM_000141.5(FGFR2):c.*197del rs748777325
NM_000141.5(FGFR2):c.*641_*644del rs548465887
NM_000141.5(FGFR2):c.-298_-297dup rs41301549
NM_000141.5(FGFR2):c.110-22TC[3] rs773932794
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
NM_000141.5(FGFR2):c.1544C>T (p.Ala515Val) rs1847510893
NM_000141.5(FGFR2):c.1600G>A (p.Glu534Lys)
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
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337

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