ClinVar Miner

List of variants reported as likely benign for Smith-McCort dysplasia 2

Included ClinVar conditions (1):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_031296.3(RAB33B):c.*595G>A rs13137997 0.13614
NM_031296.3(RAB33B):c.*543C>T rs79952078 0.09274
NM_031296.3(RAB33B):c.*254A>G rs78192594 0.04128
NM_031296.3(RAB33B):c.*590T>C rs78607198 0.01799
NM_031296.3(RAB33B):c.*2026G>A rs144602972 0.01770
NM_031296.3(RAB33B):c.*576T>C rs4131798 0.00160
NM_031296.3(RAB33B):c.*513C>T rs4131797 0.00158
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051 0.00099
NM_031296.3(RAB33B):c.*2722T>G rs539470441 0.00046
NM_031296.3(RAB33B):c.*1403C>A rs75661332
NM_031296.3(RAB33B):c.*1751G>T rs114169513
NM_031296.3(RAB33B):c.*2548T>G rs529499632

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