ClinVar Miner

List of variants in gene RAB3GAP2 reported as pathogenic

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
GRCh37/hg19 1q41(chr1:220408340-220490046)x1
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.165_168del (p.Glu56fs) rs767189501
NM_012414.4(RAB3GAP2):c.1743_1746del (p.Leu581fs) rs1658577400
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) rs2102866096
NM_012414.4(RAB3GAP2):c.1998+1G>A rs2102866054
NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs) rs1659134672
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2213-1G>A rs1553275644
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) rs1658202227
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) rs2102859415
NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs) rs1553274382
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) rs121434310
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.3862G>T (p.Glu1288Ter) rs1387931144
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)

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