ClinVar Miner

List of variants in gene RAB39B studied for X-linked disease

Included ClinVar conditions (274):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_171998.4(RAB39B):c.*1347C>T rs17052027 0.04193
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.*1945A>T rs145867198 0.00760
NM_171998.4(RAB39B):c.*282G>T rs147213132 0.00758
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 0.00151
NM_171998.4(RAB39B):c.*1452T>C rs181070478 0.00118
NM_171998.4(RAB39B):c.*339T>C rs781919581 0.00084
NM_171998.4(RAB39B):c.*1079A>C rs147409916 0.00051
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_171998.4(RAB39B):c.*588A>G rs1222599497 0.00009
NM_171998.4(RAB39B):c.*2100C>T rs1057515827 0.00005
NM_171998.4(RAB39B):c.*65A>G rs900423679 0.00003
NM_171998.4(RAB39B):c.*1428T>G rs1057515831 0.00002
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.386C>T (p.Thr129Ile) rs1557314226 0.00001
NM_171998.4(RAB39B):c.*139_*142del rs1057515834
NM_171998.4(RAB39B):c.*1621del rs1057515830
NM_171998.4(RAB39B):c.*1656= rs3105275
NM_171998.4(RAB39B):c.*1728A>G rs1057515829
NM_171998.4(RAB39B):c.*1949CAAA[1] rs1057515828
NM_171998.4(RAB39B):c.*2551T>C rs2074840717
NM_171998.4(RAB39B):c.*428C>T rs2074848966
NM_171998.4(RAB39B):c.*659_*660insATA rs1057515832
NM_171998.4(RAB39B):c.215+1G>A rs587776734
NM_171998.4(RAB39B):c.21C>A (p.Tyr7Ter) rs267606995
NM_171998.4(RAB39B):c.273T>C (p.Ile91=) rs1057515836
NM_171998.4(RAB39B):c.349G>T (p.Val117Leu) rs1557314233
NM_171998.4(RAB39B):c.43G>C (p.Gly15Arg) rs2124130247
NM_171998.4(RAB39B):c.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter) rs1557314191
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527
NM_171998.4(RAB39B):c.64T>G (p.Ser22Ala) rs2074862064

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