ClinVar Miner

List of variants in gene RAB33B reported as uncertain significance for Smith-McCort dysplasia

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP
NM_031296.3(RAB33B):c.*118T>G rs886059077
NM_031296.3(RAB33B):c.*1310G>A rs886059082
NM_031296.3(RAB33B):c.*1751G>T rs114169513
NM_031296.3(RAB33B):c.*1819A>G rs557693738
NM_031296.3(RAB33B):c.*1976A>G rs886059083
NM_031296.3(RAB33B):c.*1994T>A rs886059084
NM_031296.3(RAB33B):c.*2132T>G rs575262316
NM_031296.3(RAB33B):c.*219A>G rs886059078
NM_031296.3(RAB33B):c.*2327G>A rs755193519
NM_031296.3(RAB33B):c.*2599A>G rs886059085
NM_031296.3(RAB33B):c.*494A>C rs886059079
NM_031296.3(RAB33B):c.*632A>G rs886059080
NM_031296.3(RAB33B):c.*701G>T rs187434569
NM_031296.3(RAB33B):c.*764G>A rs886059081
NM_031296.3(RAB33B):c.*776C>T rs77490600
NM_031296.3(RAB33B):c.*796_*797del rs10604111
NM_031296.3(RAB33B):c.-48C>T rs748718122
NM_031296.3(RAB33B):c.128A>G (p.Asn43Ser) rs371561776
NM_031296.3(RAB33B):c.135C>G (p.Gly45=) rs138534367
NM_031296.3(RAB33B):c.249+10T>C rs747305009
NM_031296.3(RAB33B):c.336C>T (p.Phe112=) rs142541603
NM_031296.3(RAB33B):c.417T>G (p.Asn139Lys) rs200448316
NM_031296.3(RAB33B):c.432T>C (p.Ile144=) rs769999843
NM_031296.3(RAB33B):c.553A>G (p.Asn185Asp) rs747031994
NM_031296.3(RAB33B):c.677C>T (p.Thr226Met) rs139823051

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