ClinVar Miner

List of variants studied for anterior segment dysgenesis 3 by Invitae

Included ClinVar conditions (3):
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Total variants: 33
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HGVS dbSNP
NC_000006.11:g.(?_1610661)_(1613076_?)del
NM_001453.3(FOXC1):c.1051G>C (p.Gly351Arg) rs897755884
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
NM_001453.3(FOXC1):c.1154G>A (p.Gly385Glu) rs1215019381
NM_001453.3(FOXC1):c.1189C>T (p.Leu397=) rs771039137
NM_001453.3(FOXC1):c.1338_1340CGG[10] (p.Gly455_Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg)
NM_001453.3(FOXC1):c.141C>G (p.Tyr47Ter) rs372857241
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891
NM_001453.3(FOXC1):c.1_*1790del (p.Met1fs)
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370
NM_001453.3(FOXC1):c.235C>T (p.Pro79Ser) rs1554100945
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.344A>G (p.Tyr115Cys)
NM_001453.3(FOXC1):c.356A>G (p.Lys119Arg) rs759264099
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter) rs121909339
NM_001453.3(FOXC1):c.375C>T (p.Ser125=) rs765626020
NM_001453.3(FOXC1):c.380G>A (p.Arg127His) rs1085307884
NM_001453.3(FOXC1):c.380G>T (p.Arg127Leu) rs1085307884
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe) rs121909338
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656
NM_001453.3(FOXC1):c.504_506GCG[6] (p.Arg173dup) rs1183655796
NM_001453.3(FOXC1):c.508C>T (p.Arg170Trp)
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.753C>T (p.Ala251=) rs1554100998
NM_001453.3(FOXC1):c.807C>G (p.Ser269Arg) rs1277775861
NM_001453.3(FOXC1):c.83_91CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946
NM_001453.3(FOXC1):c.957del (p.Ser320fs) rs1241813534

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