ClinVar Miner

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

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Total variants: 11
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NM_001172435.2(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_001172435.2(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_001172435.2(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_001172435.2(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_001172435.2(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_001172435.2(RAB3GAP1):c.2822del (p.Pro941fs) rs730882182
NM_001172435.2(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
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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