ClinVar Miner

List of variants reported as not provided for Warburg micro syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 0.00002
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 0.00001
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651

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