ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_017653.5(DYM):c.*22G>A rs113500346
NM_017653.5(DYM):c.1749G>C (p.Val583=) rs60818038
NM_017653.5(DYM):c.193+9G>A rs111744206
NM_017653.5(DYM):c.342G>A (p.Leu114=) rs35357262
NM_017653.5(DYM):c.421A>G (p.Ser141Gly) rs61729806
NM_031296.2(RAB33B):c.-164G>A rs76593161
NM_031296.3(RAB33B):c.*1077G>A rs115582784
NM_031296.3(RAB33B):c.*1403C>A rs75661332
NM_031296.3(RAB33B):c.*2026G>A rs144602972
NM_031296.3(RAB33B):c.*254A>G rs78192594
NM_031296.3(RAB33B):c.*543C>T rs79952078
NM_031296.3(RAB33B):c.*590T>C rs78607198
NM_031296.3(RAB33B):c.*595G>A rs13137997
NM_031296.3(RAB33B):c.-36C>T rs182647425

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