List of variants in gene FOXC1 reported as likely pathogenic for Axenfeld-Rieger syndrome

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu)	rs1581373871	0.00001
NM_001453.3(FOXC1):c.1092dup (p.Cys365fs)
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs)	rs1554101058
NM_001453.3(FOXC1):c.1157del (p.Gly386fs)	rs1762550387
NM_001453.3(FOXC1):c.174del (p.Gly59fs)	rs2113111101
NM_001453.3(FOXC1):c.361G>A (p.Gly121Ser)	rs1581373773
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.407T>C (p.Phe136Ser)
NM_001453.3(FOXC1):c.456G>T (p.Trp152Cys)	rs886041355
NM_001453.3(FOXC1):c.470A>T (p.Asp157Val)
NM_001453.3(FOXC1):c.4C>T (p.Gln2Ter)	rs867581817
NM_001453.3(FOXC1):c.502del (p.Leu168fs)
NM_001453.3(FOXC1):c.504GCG[6] (p.Arg173dup)	rs1183655796

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