ClinVar Miner

List of variants reported as uncertain significance for Microphthalmia, syndromic 12 by Invitae

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000965.5(RARB):c.410G>A (p.Arg137Gln) rs1387195672 0.00001
NC_000003.11:g.(?_25470223)_(25824881_?)del
NC_000003.12:g.(?_25569738)_(25596636_?)dup
NM_000965.5(RARB):c.1211A>C (p.Gln404Pro) rs1559485305
NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)
NM_000965.5(RARB):c.158-1G>A
NM_000965.5(RARB):c.224dup (p.Arg76fs) rs1695165531
NM_000965.5(RARB):c.545A>G (p.Glu182Gly)
NM_000965.5(RARB):c.634C>T (p.Arg212Ter)
NM_000965.5(RARB):c.646G>A (p.Gly216Ser)
NM_000965.5(RARB):c.683G>T (p.Cys228Phe)
NM_000965.5(RARB):c.806G>C (p.Arg269Thr) rs1701696076
NM_000965.5(RARB):c.836T>C (p.Phe279Ser) rs1701697098
NM_000965.5(RARB):c.841G>T (p.Asp281Tyr) rs1701697256
NM_000965.5(RARB):c.851C>T (p.Thr284Ile) rs1575550287

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