ClinVar Miner

List of variants in gene RAB3GAP1 reported as likely pathogenic for Warburg micro syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) rs2104943498
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)

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