ClinVar Miner

List of variants in gene FGF10 studied for polydactyly-syndactyly-triphalangism

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_004465.1(FGF10):c.*5A>T rs111763965 0.01295
NM_004465.2(FGF10):c.620A>C (p.His207Pro) rs147715509 0.00152
NC_000005.9:g.44300489_44312646del
NM_004465.2(FGF10):c.116C>A (p.Ala39Asp) rs201790067
NM_004465.2(FGF10):c.156TTC[1] (p.Ser56del)
NM_004465.2(FGF10):c.17T>C (p.Leu6Pro)
NM_004465.2(FGF10):c.190G>T (p.Gly64Ter) rs1446723373
NM_004465.2(FGF10):c.1A>G (p.Met1Val) rs1554040396
NM_004465.2(FGF10):c.232del (p.Arg78fs) rs1554040364
NM_004465.2(FGF10):c.234dup (p.Trp79fs)
NM_004465.2(FGF10):c.237G>A (p.Trp79Ter)
NM_004465.2(FGF10):c.240A>C (p.Arg80Ser) rs104893888
NM_004465.2(FGF10):c.256del (p.Thr86fs) rs1554040361
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe) rs104893885
NM_004465.2(FGF10):c.325+6T>C
NM_004465.2(FGF10):c.356del (p.Gly119fs) rs1554035763
NM_004465.2(FGF10):c.367G>A (p.Val123Ile)
NM_004465.2(FGF10):c.367G>T (p.Val123Phe)
NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)
NM_004465.2(FGF10):c.386A>G (p.Asn129Ser)
NM_004465.2(FGF10):c.401T>A (p.Met134Lys) rs1554035757
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter) rs104893887
NM_004465.2(FGF10):c.452A>T (p.Lys151Met)
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg) rs104893886
NM_004465.2(FGF10):c.541A>C (p.Asn181His) rs1332768200
NM_004465.2(FGF10):c.550G>A (p.Gly184Arg) rs1554035469
NM_004465.2(FGF10):c.58T>A (p.Cys20Ser)
NM_004465.2(FGF10):c.613G>A (p.Val205Met)
NM_004465.2(FGF10):c.624A>G (p.Ser208=) rs886060653
NM_004465.2(FGF10):c.64T>C (p.Cys22Arg)
NM_004465.2(FGF10):c.70T>C (p.Phe24Leu)

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