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

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000325.6(PITX2):c.289_309dup (p.Gln103_Leu104insThrHisPheThrSerGlnGln)
NM_000325.6(PITX2):c.320T>A (p.Leu107Gln)	rs104893857
NM_000325.6(PITX2):c.361A>C (p.Thr121Pro)	rs104893858
NM_000325.6(PITX2):c.406G>C (p.Val136Leu)	rs121909249
NM_000325.6(PITX2):c.411+5G>C	rs1560590094
NM_000325.6(PITX2):c.412-11A>G	rs1198152064
NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)	rs387906810
NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)	rs104893859
NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)	rs104893860
NM_001453.3(FOXC1):c.245G>C (p.Ser82Thr)	rs104893953
NM_001453.3(FOXC1):c.335T>C (p.Phe112Ser)	rs104893951
NM_001453.3(FOXC1):c.358C>T (p.Gln120Ter)	rs121909339
NM_001453.3(FOXC1):c.388C>T (p.Leu130Phe)	rs121909338
NM_001453.3(FOXC1):c.67C>T (p.Gln23Ter)	rs104893952

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