ClinVar Miner

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

Included ClinVar conditions (313):
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Gene type:
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Total variants: 35
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HGVS dbSNP
NM_171998.4(RAB39B):c.*1006A>G rs138077054
NM_171998.4(RAB39B):c.*1040C>T rs185958813
NM_171998.4(RAB39B):c.*1079A>C rs147409916
NM_171998.4(RAB39B):c.*1347C>T rs17052027
NM_171998.4(RAB39B):c.*139_*142del rs1057515834
NM_171998.4(RAB39B):c.*1428T>G rs1057515831
NM_171998.4(RAB39B):c.*1452T>C
NM_171998.4(RAB39B):c.*1580C>G rs115301020
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.*1813C>A rs17052030
NM_171998.4(RAB39B):c.*1935G>A rs782447828
NM_171998.4(RAB39B):c.*1945A>T rs145867198
NM_171998.4(RAB39B):c.*1949_*1952CAAA[1] rs1057515828
NM_171998.4(RAB39B):c.*2100C>T rs1057515827
NM_171998.4(RAB39B):c.*2366G>A
NM_171998.4(RAB39B):c.*2551T>C
NM_171998.4(RAB39B):c.*282G>T rs147213132
NM_171998.4(RAB39B):c.*339T>C rs781919581
NM_171998.4(RAB39B):c.*428C>T
NM_171998.4(RAB39B):c.*485T>G rs1057515833
NM_171998.4(RAB39B):c.*588A>G
NM_171998.4(RAB39B):c.*659_*660insATA rs1057515832
NM_171998.4(RAB39B):c.*65A>G rs900423679
NM_171998.4(RAB39B):c.-61G>C rs898651947
NM_171998.4(RAB39B):c.-62C>A
NM_171998.4(RAB39B):c.-84C>G
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.503C>A (p.Thr168Lys) rs587777874
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter) rs1557314191
NM_171998.4(RAB39B):c.574G>A (p.Gly192Arg) rs864309527

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