List of variants reported for Axenfeld-Rieger syndrome type 1 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 4q25(chr4:111528916-111888401)x1
NC_000004.12:g.(?_110618049)_(110622472_?)del
NM_000325.6(PITX2):c.343_364del (p.Arg115fs)	rs1057519483
NM_000325.6(PITX2):c.350C>T (p.Pro117Leu)	rs1057519484
NM_000325.6(PITX2):c.430C>G (p.Arg144Gly)	rs1057519485
NM_000325.6(PITX2):c.433G>C (p.Ala145Pro)	rs1057519486
NM_000325.6(PITX2):c.714_735del (p.Thr239fs)	rs1057519487
NM_000325.6(PITX2):c.784_785del (p.Ser262fs)	rs1057519488
NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)	rs1057519489

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