ClinVar Miner

List of variants in gene RAB3GAP1 reported as pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651

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