List of variants reported as uncertain significance for Axenfeld-Rieger syndrome type 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000325.6(PITX2):c.916G>A (p.Val306Met)	rs760790139	0.00001
NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)	rs571758306	0.00001
NM_000325.6(PITX2):c.242T>G (p.Val81Gly)
NM_000325.6(PITX2):c.287_288delinsCA (p.Arg96Pro)
NM_000325.6(PITX2):c.376G>A (p.Ala126Thr)	rs2110435645
NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)
NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)	rs104893859
NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)
NM_000325.6(PITX2):c.697A>G (p.Met233Val)

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