List of variants in gene RAB3GAP2 reported as pathogenic for Warburg micro 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys)	rs587777167	0.00001
NC_000001.10:g.(?_220330592)_(220335630_?)del
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)	rs587777168
NM_012414.4(RAB3GAP2):c.1998+1G>A	rs2102866054
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)	rs1553275687
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)	rs587777170
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter)	rs587777169
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del)	rs1553278569
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)

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