ClinVar Miner

List of variants studied for Levy-Hollister syndrome by Center for Human Genetics, Inc, Center for Human Genetics, Inc

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1477G>T (p.Gly493Trp) rs1554917471
NM_000141.5(FGFR2):c.2021C>T (p.Ala674Val) rs1554907337
NM_004465.2(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.2(FGF10):c.232del (p.Arg78fs) rs1554040364
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.256del (p.Thr86fs) rs1554040361
NM_004465.2(FGF10):c.356del (p.Gly119fs) rs1554035763
NM_004465.2(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.2(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) rs1554035469

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