ClinVar Miner

List of variants in gene RAB3GAP1 reported as pathogenic for Martsolf syndrome 2

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.2607-1G>C	rs2105001159
NM_012233.3(RAB3GAP1):c.2709+1G>T
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs)	rs1553437083

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