ClinVar Miner

List of variants studied for Symphalangism-brachydactyly syndrome

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002010.3(FGF9):c.-118_-117insC rs1555223896 0.00456
NM_002010.3(FGF9):c.-37dup rs752566182 0.00032
NM_002010.3(FGF9):c.*435C>T rs886050052 0.00029
NM_000557.5(GDF5):c.-30C>A rs375024998 0.00016
NM_002010.3(FGF9):c.-116dup rs1555223891 0.00001
NM_002010.3(FGF9):c.*1507A>G rs886050057
NM_002010.3(FGF9):c.*2210del rs577984328
NM_002010.3(FGF9):c.*2463dup rs757466207
NM_002010.3(FGF9):c.*2497del rs148832636
NM_002010.3(FGF9):c.*266GT[5] rs761639029
NM_002010.3(FGF9):c.*274_*275del rs886050049
NM_002010.3(FGF9):c.*274_*277del rs201279299
NM_002010.3(FGF9):c.*274_*279del rs886050047
NM_002010.3(FGF9):c.*276GT[14] rs61706549
NM_002010.3(FGF9):c.*276GT[16] rs61706549
NM_002010.3(FGF9):c.*276GT[19] rs61706549
NM_002010.3(FGF9):c.*479CTTA[1] rs886050053
NM_002010.3(FGF9):c.-117dup rs10624265
NM_002010.3(FGF9):c.-118_-117dup rs10624265
NM_002010.3(FGF9):c.-335del rs886050042
NM_002010.3(FGF9):c.-585dup rs886050040
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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