List of variants studied for Axenfeld-Rieger syndrome type 1 by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_018699.4(PRDM5):c.877A>G (p.Lys293Glu)	rs779601690	0.00002
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

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