ClinVar Miner

List of variants reported as pathogenic for Symphalangism-brachydactyly syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_005450.6(NOG):c.58del (p.Leu20fs) rs2145567008
NM_005450.6(NOG):c.614G>A (p.Trp205Ter) rs1567745119
NM_005450.6(NOG):c.615G>C (p.Trp205Cys) rs104894615
NM_005450.6(NOG):c.649T>G (p.Trp217Gly) rs104894603
NM_005450.6(NOG):c.64dup (p.Ala22fs) rs1597919829
NM_005450.6(NOG):c.696C>G (p.Cys232Trp) rs387906844

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