List of variants reported as likely pathogenic for Axenfeld-Rieger syndrome by Invitae

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NC_000004.11:g.(?_111539261)_(111543636_?)del
NC_000004.12:g.(?_110618181)_(110621345_?)del
NM_000325.6(PITX2):c.361dup (p.Thr121fs)	rs1553922891
NM_000325.6(PITX2):c.412-2A>G	rs1553922583
NM_000325.6(PITX2):c.430C>T (p.Arg144Trp)	rs1057519485
NM_001453.3(FOXC1):c.1142_1144delinsGCGC (p.Ala381fs)	rs1554101058
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.504GCG[6] (p.Arg173dup)	rs1183655796

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