ClinVar Miner

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

Included ClinVar conditions (2):
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Total variants: 10
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HGVS dbSNP
NM_018699.3(PRDM5):c.877A>G (p.Lys293Glu) rs779601690
NM_153427.2(PITX2):c.161T>A (p.Leu54Gln) rs104893857
NM_153427.2(PITX2):c.202A>C (p.Thr68Pro) rs104893858
NM_153427.2(PITX2):c.247G>C (p.Val83Leu) rs121909249
NM_153427.2(PITX2):c.252+5G>C rs1560590094
NM_153427.2(PITX2):c.253-11A>G rs1198152064
NM_153427.2(PITX2):c.262A>G (p.Lys88Glu) rs387906810
NM_153427.2(PITX2):c.272G>C (p.Arg91Pro) rs104893859
NM_153427.2(PITX2):c.399G>A (p.Trp133Ter) rs104893860
PITX2, 21-BP DUP, NT713

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