ClinVar Miner

List of variants reported as uncertain significance for Axenfeld-Rieger syndrome type 3; Anterior segment dysgenesis 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001453.3(FOXC1):c.1109G>C (p.Ser370Thr) rs535065221 0.00011
NM_001453.3(FOXC1):c.1064C>T (p.Pro355Leu) rs886043447 0.00008
NM_001453.3(FOXC1):c.1337A>G (p.His446Arg) rs1413102496 0.00007
NM_001453.3(FOXC1):c.1469C>T (p.Ala490Val) rs767729842 0.00007
NM_001453.3(FOXC1):c.808G>C (p.Gly270Arg) rs901581290 0.00007
NM_001453.3(FOXC1):c.1267G>A (p.Ala423Thr) rs281865460 0.00003
NM_001453.3(FOXC1):c.532G>C (p.Asp178His) rs751970827 0.00003
NM_001453.3(FOXC1):c.1246C>T (p.Pro416Ser) rs772035500 0.00002
NM_001453.3(FOXC1):c.1370A>G (p.Gln457Arg) rs908841297 0.00002
NM_001453.3(FOXC1):c.869C>T (p.Ser290Phe) rs775681400 0.00002
NM_001453.3(FOXC1):c.1015T>C (p.Ser339Pro) rs1422224202 0.00001
NM_001453.3(FOXC1):c.363C>T (p.Gly121=) rs752309038 0.00001
NM_001453.3(FOXC1):c.886G>T (p.Ala296Ser) rs1331057949 0.00001
NM_001453.3(FOXC1):c.1124GCG[4] (p.Gly379_Gly380del) rs76840944
NM_001453.3(FOXC1):c.1161_1169dup (p.386GAG[3]) rs1462344492
NM_001453.3(FOXC1):c.1253G>T (p.Gly418Val) rs1056318557
NM_001453.3(FOXC1):c.1323GTC[1] (p.Ser443del) rs1208223684
NM_001453.3(FOXC1):c.1596_1623del (p.Phe533fs) rs1762565496
NM_001453.3(FOXC1):c.1600C>T (p.Pro534Ser) rs1481638796
NM_001453.3(FOXC1):c.418C>T (p.Pro140Ser) rs777521814
NM_001453.3(FOXC1):c.550GAG[1] (p.Glu185del) rs774823663
NM_001453.3(FOXC1):c.593_610del (p.Gly198_Pro203del) rs567719270
NM_001453.3(FOXC1):c.784AGC[3] (p.Ser265_Ser266del) rs761199025
NM_001453.3(FOXC1):c.784AGC[6] (p.Ser266dup) rs761199025
NM_001453.3(FOXC1):c.926_940del (p.Ser309_Ile313del) rs774848608

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