List of variants in gene RAB3GAP1 reported as likely 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)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.68G>A (p.Trp23Ter)	rs145829300	0.00002
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter)	rs766629205	0.00001
NM_012233.3(RAB3GAP1):c.520C>T (p.Arg174Ter)	rs749616608	0.00001
NC_000002.11:g.(?_135848548)_(135851283_?)dup
NM_012233.3(RAB3GAP1):c.1326+2T>G
NM_012233.3(RAB3GAP1):c.1499+1G>T
NM_012233.3(RAB3GAP1):c.18+1G>C
NM_012233.3(RAB3GAP1):c.2121T>G (p.Tyr707Ter)
NM_012233.3(RAB3GAP1):c.2290-1G>C
NM_012233.3(RAB3GAP1):c.2343_2347del (p.Pro782fs)	rs794727324
NM_012233.3(RAB3GAP1):c.648+1G>C
NM_012233.3(RAB3GAP1):c.970dup (p.Leu324fs)	rs1231893162

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