List of variants reported as likely pathogenic for Microphthalmia, syndromic 12

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000965.5(RARB):c.1151G>A (p.Gly384Asp)	rs1701834292
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	rs397518483
NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)	rs1575553528
NM_000965.5(RARB):c.1210C>T (p.Gln404Ter)	rs1575553547
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	rs869025222
NM_000965.5(RARB):c.835T>G (p.Phe279Val)	rs1701696937
NM_000965.5(RARB):c.872A>T (p.His291Leu)	rs1553637470
NM_000965.5(RARB):c.881G>T (p.Gly294Val)	rs2125325458
NM_000965.5(RARB):c.887G>C (p.Gly296Ala)	rs869025221

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