List of variants in gene RAB3GAP2 reported as pathogenic for not provided

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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
GRCh37/hg19 1q41(chr1:220408340-220490046)x1
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.214del (p.Thr72fs)	rs1659134672
NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs)	rs1553274382
NM_012414.4(RAB3GAP2):c.3862G>T (p.Glu1288Ter)	rs1387931144

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