ClinVar Miner

List of variants studied for lymphedema-distichiasis syndrome

Included ClinVar conditions (1):
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_005251.3(FOXC2):c.1331A>G (p.Gln444Arg) rs147258453 0.00136
NM_005251.3(FOXC2):c.1364A>G (p.Asn455Ser) rs138612549 0.00036
NM_005251.3(FOXC2):c.605A>C (p.Asp202Ala) rs201456476 0.00006
NM_005251.2(FOXC2):c.(?_1)_(1506_?)del
NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) rs1567571702
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs)
NM_005251.3(FOXC2):c.1169_1189del (p.Gln390_His396del) rs976840192
NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) rs1567571823
NM_005251.3(FOXC2):c.1221del (p.Gln407fs) rs2144020781
NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) rs1043354227
NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) rs1567571863
NM_005251.3(FOXC2):c.1265C>T (p.Ala422Val)
NM_005251.3(FOXC2):c.1331del (p.Gln444fs) rs1597403198
NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) rs1567571065
NM_005251.3(FOXC2):c.209dup (p.Val71fs) rs1567571075
NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) rs1567571141
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter) rs2144018707
NM_005251.3(FOXC2):c.347G>A (p.Trp116Ter) rs1974216738
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005251.3(FOXC2):c.362G>A (p.Arg121His) rs121909107
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005251.3(FOXC2):c.390C>A (p.Phe130Leu)
NM_005251.3(FOXC2):c.509del (p.Lys170fs) rs1567571276
NM_005251.3(FOXC2):c.529_531del (p.Lys177del)
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) rs1974220729
NM_005251.3(FOXC2):c.588dup (p.Thr197fs) rs1567571345
NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) rs1567571360
NM_005251.3(FOXC2):c.710dup (p.Gln238fs) rs1974224118
NM_005251.3(FOXC2):c.760G>C (p.Gly254Arg) rs966178183
NM_005251.3(FOXC2):c.782C>A (p.Ala261Asp) rs1974225710
NM_005251.3(FOXC2):c.889GTG[3] (p.Val298dup) rs758855849
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)
NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) rs1567571564
NM_005251.3(FOXC2):c.939C>G (p.Tyr313Ter) rs1597402936
NM_005251.3(FOXC2):c.973del (p.Ala325fs) rs1974229664

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