ClinVar Miner

List of variants reported as likely pathogenic for Axenfeld-Rieger syndrome type 3

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Total variants: 6
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HGVS dbSNP
NC_000006.12:g.1610806G>A
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs) rs1554101058
NM_001453.3(FOXC1):c.256C>T (p.Leu86Phe) rs886039568
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.504_506GCG[6] (p.Arg173dup) rs1183655796

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