List of variants in gene RAB3GAP1 reported as pathogenic by OMIM

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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: 14

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HGVS	dbSNP	gnomAD frequency
NM_012233.3(RAB3GAP1):c.899+1G>A	rs587777152	0.00002
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter)	rs267606996
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter)	rs137853053
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter)	rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs)	rs587777153
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer)	rs2104983369
NM_012233.3(RAB3GAP1):c.2607-1G>C	rs2105001159
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs)	rs730882184
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs)	rs730882182
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro)	rs587777154
NM_012233.3(RAB3GAP1):c.649-2A>G	rs730882183
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val)	rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A	rs587776651
NM_012233.3(RAB3GAP1):c.9del (p.Asp4fs)	rs1553437083

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