ClinVar Miner

List of variants reported as pathogenic for Warburg micro syndrome 1 by GeneReviews

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Total variants: 9
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NM_001172435.2(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185
NM_001172435.2(RAB3GAP1):c.2822del (p.Pro941fs) rs730882182
NM_001172435.2(RAB3GAP1):c.2886_2887insTTCT (p.Pro963fs) rs1553450718
NM_001172435.2(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_001172435.2(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_001172435.2(RAB3GAP1):c.649-2A>G rs730882183
NM_001172435.2(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_001172435.2(RAB3GAP1):c.748+1G>A rs587776651
NM_001172435.2(RAB3GAP1):c.899+1G>A rs587777152

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