List of variants in gene RAB3GAP1 reported as likely pathogenic for Warburg micro syndrome 1

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter)	rs764260054	0.00001
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter)	rs2104943498
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter)	rs1553444644
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)

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