ClinVar Miner

List of variants in gene FOXC1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
NM_001453.3(FOXC1):c.1452C>T (p.His484=) rs749512415 0.00019
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_001453.3(FOXC1):c.1412C>G (p.Thr471Ser) rs758013827 0.00006
NM_001453.3(FOXC1):c.786C>T (p.Ser262=) rs1284573981 0.00002
NM_001453.3(FOXC1):c.1025C>G (p.Ala342Gly)
NM_001453.3(FOXC1):c.1095C>T (p.Cys365=)
NM_001453.3(FOXC1):c.1121C>T (p.Ser374Leu)
NM_001453.3(FOXC1):c.1124GCG[5] (p.Gly380del) rs76840944
NM_001453.3(FOXC1):c.1257G>C (p.Ala419=)
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[6] (p.Gly455_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1436G>A (p.Gly479Asp)
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[5] (p.Ala495del) rs747574884
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.406_418del (p.Phe136fs)
NM_001453.3(FOXC1):c.468G>A (p.Pro156=) rs200100677
NM_001453.3(FOXC1):c.821dup (p.Ser276fs) rs2113112720
NM_001453.3(FOXC1):c.846G>A (p.Pro282=) rs1261991191

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