ClinVar Miner

List of variants studied for Intellectual disability, X-linked 72 by Illumina Laboratory Services, Illumina

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_171998.4(RAB39B):c.*1347C>T rs17052027 0.04132
NM_171998.4(RAB39B):c.*1813C>A rs17052030 0.03516
NM_171998.4(RAB39B):c.*1580C>G rs115301020 0.02663
NM_171998.4(RAB39B):c.*282G>T rs147213132 0.00758
NM_171998.4(RAB39B):c.*1945A>T rs145867198 0.00717
NM_171998.4(RAB39B):c.*1006A>G rs138077054 0.00682
NM_171998.4(RAB39B):c.*1040C>T rs185958813 0.00335
NM_171998.4(RAB39B):c.*1935G>A rs782447828 0.00142
NM_171998.4(RAB39B):c.*1452T>C rs181070478 0.00111
NM_171998.4(RAB39B):c.*339T>C rs781919581 0.00084
NM_171998.4(RAB39B):c.*1079A>C rs147409916 0.00073
NM_171998.4(RAB39B):c.-61G>C rs898651947 0.00030
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_171998.4(RAB39B):c.-84C>G rs1008244571 0.00019
NM_171998.4(RAB39B):c.*588A>G rs1222599497 0.00007
NM_171998.4(RAB39B):c.*65A>G rs900423679 0.00002
NM_171998.4(RAB39B):c.*1428T>G rs1057515831 0.00001
NM_171998.4(RAB39B):c.*2100C>T rs1057515827 0.00001
NM_171998.4(RAB39B):c.*2366G>A rs1482592329 0.00001
NM_171998.4(RAB39B):c.*485T>G rs1057515833 0.00001
NM_171998.4(RAB39B):c.*1656= rs3105275
NM_171998.4(RAB39B):c.*1728A>G rs1057515829
NM_171998.4(RAB39B):c.*2551T>C rs2074840717
NM_171998.4(RAB39B):c.*428C>T rs2074848966
NM_171998.4(RAB39B):c.-62C>A rs2074862600
NM_171998.4(RAB39B):c.273T>C (p.Ile91=) rs1057515836

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