ClinVar Miner

List of variants studied for anterior segment dysgenesis 3 by Molecular Pathology, SA Pathology

Included ClinVar conditions (3):
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Total variants: 17
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HGVS dbSNP
GRCh37/hg19 6p25.3(chr6:951385-1832936)x3
NC_000006.11:g.(?_1610680)_(1612342_?)del
NM_001453.3(FOXC1):c.100_109del (p.Gly34fs) rs1057519471
NM_001453.3(FOXC1):c.116_123del (p.Ala39fs) rs1057519472
NM_001453.3(FOXC1):c.1265C>A (p.Ser422Ter) rs1057519482
NM_001453.3(FOXC1):c.1491C>G (p.Tyr497Ter) rs760676014
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
NM_001453.3(FOXC1):c.268G>A (p.Ala90Thr) rs1057519473
NM_001453.3(FOXC1):c.269C>A (p.Ala90Asp) rs1057519474
NM_001453.3(FOXC1):c.316C>T (p.Gln106Ter) rs1057519475
NM_001453.3(FOXC1):c.457A>C (p.Thr153Pro) rs1057519476
NM_001453.3(FOXC1):c.487G>T (p.Glu163Ter) rs1057519477
NM_001453.3(FOXC1):c.599_617del (p.Gln200fs) rs1057519478
NM_001453.3(FOXC1):c.666_681del (p.Ile223fs) rs1057519479
NM_001453.3(FOXC1):c.718_719del (p.Leu240fs) rs1057519480
NM_001453.3(FOXC1):c.925_949del (p.Ser309fs) rs1057519481
der(6)t(6;10)(p25.2;q26.3)

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