ClinVar Miner

List of variants in gene FOXC1 reported by GeneDx

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_001453.3(FOXC1):c.*52G>A rs73406893 0.02925
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00332
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
NM_001453.3(FOXC1):c.*576A>C rs34877245 0.00194
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_001453.3(FOXC1):c.544G>A (p.Asp182Asn) rs142371761 0.00039
NM_001453.3(FOXC1):c.1211C>T (p.Ala404Val) rs865901577 0.00024
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00021
NM_001453.3(FOXC1):c.1443C>T (p.Asp481=) rs183970787 0.00017
NM_001453.3(FOXC1):c.1486G>A (p.Gly496Ser) rs775345164 0.00017
NM_001453.3(FOXC1):c.*105C>A rs116336796
NM_001453.3(FOXC1):c.*547G>A rs77607008
NM_001453.3(FOXC1):c.1040C>G (p.Pro347Arg) rs556342882
NM_001453.3(FOXC1):c.1048C>T (p.Leu350Phe)
NM_001453.3(FOXC1):c.1091C>G (p.Pro364Arg) rs755490120
NM_001453.3(FOXC1):c.1102_1109del (p.Thr368fs) rs2113113584
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1124_1125insGCG (p.Gly375_Gly376insArg) rs2113113713
NM_001453.3(FOXC1):c.1139_1140insGCG (p.Gly380_Ala381insArg) rs2113113820
NM_001453.3(FOXC1):c.1229del (p.Gly410fs) rs1554101076
NM_001453.3(FOXC1):c.1297_1298del (p.Leu433fs) rs1554101091
NM_001453.3(FOXC1):c.1338CGG[5] (p.Gly454_Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338_1339insCGG (p.His446_Gly447insArg) rs373075286
NM_001453.3(FOXC1):c.1351_1352insCCG (p.Gly450_Gly451insAla) rs1203559520
NM_001453.3(FOXC1):c.1359_1360insCGG (p.Gly453_Gly454insArg) rs2113114648
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1464GGC[7] (p.Ala495dup) rs747574884
NM_001453.3(FOXC1):c.1464GGC[9] (p.Ala495_Gly496insAlaAlaAla) rs747574884
NM_001453.3(FOXC1):c.1621C>G (p.Arg541Gly) rs2113115309
NM_001453.3(FOXC1):c.208C>T (p.Gln70Ter) rs2480501985
NM_001453.3(FOXC1):c.20dup (p.Ser8fs) rs1581373410
NM_001453.3(FOXC1):c.338C>T (p.Pro113Leu)
NM_001453.3(FOXC1):c.372C>G (p.Asn124Lys) rs1762523183
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.392C>A (p.Ser131Ter) rs104893957
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.446G>A (p.Gly149Asp)
NM_001453.3(FOXC1):c.454T>G (p.Trp152Gly) rs2113111766
NM_001453.3(FOXC1):c.456G>A (p.Trp152Ter) rs886041355
NM_001453.3(FOXC1):c.476ACA[1] (p.Asn160del) rs2113111795
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
NM_001453.3(FOXC1):c.643G>A (p.Gly215Ser) rs1762532465
NM_001453.3(FOXC1):c.772G>T (p.Glu258Ter) rs1554101000
NM_001453.3(FOXC1):c.81_100del (p.Ala28fs) rs2113110795
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001453.3(FOXC1):c.883C>T (p.Pro295Ser)
NM_001453.3(FOXC1):c.910C>T (p.His304Tyr)
NM_001453.3(FOXC1):c.994del (p.Leu332fs) rs2480505023

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