ClinVar Miner

List of variants in gene GLI3 reported as pathogenic for Postaxial polydactyly, type A1/B

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000168.6(GLI3):c.1616_1617del (p.Arg539fs) rs398122899
NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter) rs121917709
NM_000168.6(GLI3):c.3707del (p.Gly1236fs) rs1583729398

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