ClinVar Miner

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

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Total variants: 10
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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_018699.3(PRDM5):c.877A>G (p.Lys293Glu) rs779601690
PITX2, 21-BP DUP, NT713

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